1
Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic
Lippard Lab for Clinical Investigation
15 York Street, Ste Klastskin Liver Service
New Haven, CT 06510
1 of 4
- Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease ClinicLippard Lab for Clinical Investigation15 York Street, Ste Klastskin Liver ServiceNew Haven, CT 06510
- Yale New Haven Transplantation Center - Rare DiseasesYale Physicians Building800 Howard Avenue, Fl 4th FloorNew Haven, CT 06519
- Yale Transplant Center; Long Ridge Medical CenterLong Ridge Medical Center260 Long Ridge RoadStamford, CT 06902
- 145 Huguenot St145 Huguenot StreetNew Rochelle, NY 10801
Pramod Mistry, MBBS, PhD, MA, MD
Internal Medicine, Hepatology, Transplant Hepatology, Genetics
Telehealth is available
Patient type treated
Child, Adult
Accepting new patients
Yes
Referral required
From patients or physicians
Board Certified in
Internal Medicine
Biography
Pramod K. Mistry, MBBS, PhD, FRCP, FAASLD, cares for adults and children with inherited metabolic liver diseases. He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. In addition to his clinical work, Dr. Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center.
Dr. Mistry, who was born in Kenya and grew up in England, has additional clinical interests in such areas as liver disorders of lipid metabolism (such as Neimann Pick disease, cholesterol ester storage disease), alpha 1 antitrypsin deficiency, porphyrias, and undiagnosed liver diseases in the younger patients. Since 2001, he has played a key role in helping to establish Yale Medicine’s adult and pediatric liver transplant programs.
At Yale School of Medicine, he is a professor of both medicine (digestive diseases) and of pediatrics (gastroenterology), and of cellular and molecular physiology. “My research is focused on the discovery of novel treatments and mechanisms of genetic liver diseases, and developing biomarkers to monitor patients,” he says.
He has published extensively in top-rated journals and led numerous international clinical trials for treatment of rare diseases.
Titles
- Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology)
- Professor of Cellular & Molecular Physiology
- Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center
Education & Training
- MDUniversity of the State of New York, MD Conferral by the Board of Regents (2015)
- MAYale University, Yale Privatim (2007)
- FellowAddenbrooke's Hospital, Cambridge (1994)
- ResidentRoyal Free Hospital, London (1989)
- MBBSRoyal Free Hospital School of Medicine (1983)
- PhDSt. Thomas' Hospital Medical School (1979)
- InternRoyal Free Hospital, London
- FellowRoyal Free Hospital, London
Languages Spoken
- English
- ગુજરાતી (Gujarati)
- हिन्दी (Hindi)
- Kiswahili (Swahili)
Additional Information
Honors & Recognitions
- Fellow: Royal Society of Medicine (2008)
- M.A. (privatim): Yale University (2007)
- National Gaucher Foundation (USA) award for contributions to Gaucher’s disease: (2005)
- Named in Top Doctors of America: (2005)
- Nominated for Bohmfalk Teaching Award in Clinical Science: Yale University School of Medicine (2005)
- Physician of the Year: Genetic Disease Foundation, NY (2000)
- Fellow: Royal College of Physicians (1999)
- Alan Gordon Memorial Award: Gaucher Association, UK (1998)
- Fellow: Foulke's Foundation (1980)
Board Certifications
- AB of Internal Medicine, Internal Medicine (1999, recertified: 2019)
Professional Service
- Yale School of Medicine (2013): Search committee for Chief of Transplantation
- Yale School of Medicine (2013 - Present): Appointments & Promotions Committee, Department of Medicine
- Yale Medical School (2011): Search Committee for Chief of Pediatric Surgery
- Yale School of Medicine (2011): Search Committee for Medical Director of Pediatric Liver Transplant Program
- Yale School of Medicine (2010 - Present): Present Appointment & Promotions Committee (Term) of Yale School of Medicine
- NIH NIDDK (2009): NIH NIDDK special emphasis panel review panel Childhood Liver Disease Research Network
- Yale School of Medicine (2007 - Present): Selection Committee of YSM
- Yale School of Medicine (2007): Search Committee for Chief of Solid Organ Transplantation
- Yale School of Medicine (2006 - 2012): Appointment & Promotions Committee, Department of Pediatrics
- Yale School of Medicine (2006 - Present): Medical School Selection Committee
Publications
- Rabin R, Hirsch Y, Booth K, Hall P, Yachelevich N, Mistry P, Ekstein J, Pappas J. ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal Of Medical Genetics Part A 2024, e63919. PMID: 39473378, DOI: 10.1002/ajmg.a.63919.
- Puthumana J, Lugon N, Xu Y, Deng Y, Mistry P, Parikh C, Consortium T, Angeli P, Belcher J, Gambino C, Salaheldin M, Treepraertsuk S. Systematic Review and Meta-Analysis of Urine Neutrophil Gelatinase–Associated Lipocalin for Acute Kidney Injury in Cirrhosis. Kidney International Reports 2024, 9: 2278-2281. PMID: 39081737, PMCID: PMC11284356, DOI: 10.1016/j.ekir.2024.04.050.
- Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific prevalence of Parkinson’s disease and possible parkinsonian syndrome in Gaucher disease: Real-world evidence from the ICGG Gaucher Registry. Parkinsonism & Related Disorders 2024, 122: 106119. DOI: 10.1016/j.parkreldis.2024.106119.
- Mistry P. Gaucher disease type 3: disease mechanisms and potential therapies. The Biomedical & Life Sciences Collection 2024, 2024: e1005614. DOI: 10.69645/pxam2089.
- Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Oliveira‐dos‐Santos A, Perichon M, Cil S, Kishnani P. Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2024, 99: 1500-1510. PMID: 38686876, DOI: 10.1002/ajh.27347.
- El-Beshlawy A, Tylki-Szymanska A, Belmatoug N, Mistry P. Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3. Future Rare Diseases 2024, 4: frd52. DOI: 10.2217/frd-2023-0015.
- Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific Risk of Parkinson’s Disease and Parkinsonian Syndrome in Patients with Type 1 Gaucher Disease: Real-world Evidence from the International Collaborative Gaucher Group Gaucher Registry (P2-3.001). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000205243.
- Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities. Molecular Genetics And Metabolism 2024, 141: 108025. DOI: 10.1016/j.ymgme.2023.108025.
- Balwani M, Mistry P, di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon M, Alcalay R. Age-specific risk of Parkinson's disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2024, 141: 107767. DOI: 10.1016/j.ymgme.2023.107767.
- Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease. Molecular Genetics And Metabolism 2024, 141: 108027. DOI: 10.1016/j.ymgme.2023.108027.
- Saith A, Kasaiyan M, Ruan J, Basiri M, Mistry P. Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes. Molecular Genetics And Metabolism 2024, 141: 108026. DOI: 10.1016/j.ymgme.2023.108026.
- Nair S, Belinsky G, Mistry P. VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis. Molecular Genetics And Metabolism 2024, 141: 107978. DOI: 10.1016/j.ymgme.2023.107978.
- Mistry P, Garcia-Tsao G. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism. New England Journal Of Medicine 2023, 389: 2010-2013. PMID: 37991861, DOI: 10.1056/nejme2310332.
- Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.
- Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Uslu S, Kishnani P. P1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY. HemaSphere 2023, 7: e2191333. PMCID: PMC10430384, DOI: 10.1097/01.hs9.0000973228.21913.33.
- Mistry P. Gaucher disease type 3: genetics and phenotypes. The Biomedical & Life Sciences Collection 2023, 2023: e1005604. DOI: 10.69645/poro3742.
- El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.
- Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.
- Mistry P, Kishnani P, Balwani M, Charrow J, Hull J, Weinreb N, Cox T. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158. Journal Of Clinical Medicine 2023, 12: 3269. PMID: 37176709, PMCID: PMC10179580, DOI: 10.3390/jcm12093269.
- Nair S, Belinsky G, Ruan J, Basiri M, Klinger K, Mistry P. Single cell resolution of neurodegeneration in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107233. DOI: 10.1016/j.ymgme.2022.107233.
- Mistry P, Bianculli P, Batsu I, Heine W, Oliveira-dos-Santos A, Minini P, Batista J. Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry. Molecular Genetics And Metabolism 2023, 138: 107225. DOI: 10.1016/j.ymgme.2022.107225.
- Basiri M, Ruan J, Nair S, Lau H, Mistry P, Taddei T. The risk of hepatocellular carcinoma is markedly increased in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107022. DOI: 10.1016/j.ymgme.2022.107022.
- Basiri M, Ruan J, Nair S, Guo L, Mistry P. Severe pulmonary arterial hypertension in Gaucher disease type 1. Molecular Genetics And Metabolism 2023, 138: 107021. DOI: 10.1016/j.ymgme.2022.107021.
- Basiri M, Ruan J, Belinsky G, Yang R, Guo L, Klinger K, Mistry P. Osteonecrosis in the era of Gaucher disease therapies. Molecular Genetics And Metabolism 2023, 138: 107020. DOI: 10.1016/j.ymgme.2022.107020.
- King L, Aguiar M, Chiorean A, Dumitriu A, Hull J, Mistry P, Modave F, Montmerle M, Pavlick P, Shah N, Weinreb N, Wilson A. P310: Project Searchlight study methodology: Real-world evaluation and validation of an algorithm to identify persons at risk of Gaucher disease. Genetics In Medicine Open 2023, 1: 100338. DOI: 10.1016/j.gimo.2023.100338.
- Cox T, Charrow J, Lukina E, Mistry P, Foster M, Peterschmitt M. Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics In Medicine 2022, 25: 100329. PMID: 36469032, DOI: 10.1016/j.gim.2022.10.011.
- Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ. Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial. Brain 2022, 146: 461-474. PMID: 36256599, PMCID: PMC9924909, DOI: 10.1093/brain/awac379.
- Mistry P, Kishnani P, Wanner C, Dong D, Bender J, Batista J, Foster J. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet Journal Of Rare Diseases 2022, 17: 362. PMID: 36244992, PMCID: PMC9573793, DOI: 10.1186/s13023-022-02517-0.
- Rosenbloom BE, Cappellini MD, Weinreb NJ, Dragosky M, Revel‐Vilk S, Batista JL, Sekulic D, Mistry PK. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. American Journal Of Hematology 2022, 97: 1337-1347. PMID: 36054609, PMCID: PMC9541044, DOI: 10.1002/ajh.26675.
- Boddupalli CS, Nair S, Belinsky G, Gans J, Teeple E, Nguyen TH, Mehta S, Guo L, Kramer ML, Ruan J, Wang H, Davison M, Kumar D, Vidyadhara D, Zhang B, Klinger K, Mistry PK. Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy. ELife 2022, 11: e79830. PMID: 35972072, PMCID: PMC9381039, DOI: 10.7554/elife.79830.
- Grabowski GA, Mistry PK. Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science. Molecular Genetics And Metabolism 2022, 137: 81-91. PMID: 35933791, DOI: 10.1016/j.ymgme.2022.07.014.
- Adhyaru K, Menezes S, Mistry PK, Nagral A, Mistry P. Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease. Cureus 2022, 14: e23941. PMID: 35535294, PMCID: PMC9079779, DOI: 10.7759/cureus.23941.
- Verma IC, El-Beshlawy A, Tylki-Szymańska A, Martins A, Duan Y, Collin-Histed T, van der Linde MS, Mansour R, Dũng VC, Mistry PK. Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise. Orphanet Journal Of Rare Diseases 2022, 17: 87. PMID: 35369888, PMCID: PMC8977120, DOI: 10.1186/s13023-022-02192-1.
- Pappas J, Rabin R, Mistry P, Hirsch Y, Yachelevich N. eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry. Genetics In Medicine 2022, 24: s127-s128. DOI: 10.1016/j.gim.2022.01.242.
- King L, Aguiar M, Chiorean A, Dumitriu A, Mistry P, Modave F, Montmerle M, Pavlick P, Weinreb N, Wilson A. Project Searchlight Gaucher study design: Real-world evaluation and validation of a rare disease algorithm to identify persons at risk of Gaucher disease using data from electronic health records in the United States. Molecular Genetics And Metabolism 2022, 135: s114. DOI: 10.1016/j.ymgme.2021.11.303.
- Cassiman D, Mistry P, Jones S, Lachmann R, Lukina E, Prada C, Thurberg B, Wasserstein M, Foster M, Patel R, Ribes M, Underhill L, Peterschmitt M. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials. Molecular Genetics And Metabolism 2022, 135: s29. DOI: 10.1016/j.ymgme.2021.11.058.
- Lau H, Mistry P, Wood J, Singamsetty S. A natural history study of Sanfilippo syndrome type D (MPS type IIID). Molecular Genetics And Metabolism 2022, 135: s71. DOI: 10.1016/j.ymgme.2021.11.180.
- Drelichman G, Escobar N, Soberon B, Basack N, Frabasil J, Schenone A, Aguilar G, Larroudé M, Knight J, Zhao D, Ruan J, Mistry PK, Disease A. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. Molecular Genetics And Metabolism Reports 2021, 29: 100820. PMID: 34820281, PMCID: PMC8600149, DOI: 10.1016/j.ymgmr.2021.100820.
- Kleytman N, Ruan J, Ruan A, Zhang B, Murugesan V, Lin H, Guo L, Klinger K, Mistry PK. Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease. Molecular Genetics And Metabolism Reports 2021, 29: 100798. PMID: 34485083, PMCID: PMC8408524, DOI: 10.1016/j.ymgmr.2021.100798.
- Narayanan P, Nair S, Balwani M, Malinis M, Mistry P. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. Molecular Genetics And Metabolism 2021, 135: 115-121. PMID: 34412940, PMCID: PMC8361210, DOI: 10.1016/j.ymgme.2021.08.004.
- Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.
- Mistry PK, Lukina E, Turkia H, Shankar SP, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. American Journal Of Hematology 2021, 96: 1156-1165. PMID: 34161616, PMCID: PMC8457136, DOI: 10.1002/ajh.26276.
- Ryan E, Lopez G, Balwani M, Barbouth D, Burrow T, Ginns E, Goker-Alpan O, Grabowski G, Kartha R, Kishnani P, Lau H, Lee C, Mistry P, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal T, Schiffmann R, Weinreb N, Sidransky E. COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic. Molecular Genetics And Metabolism 2021, 132: s93. PMCID: PMC7849417, DOI: 10.1016/j.ymgme.2020.12.223.
- Rosenbloom B, Cappellini M, Dragosky M, Weinreb N, McClain M, Sekulic D, Mistry P. Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2021, 132: s91-s92. DOI: 10.1016/j.ymgme.2020.12.220.
- Fierro L, Nesheiwat N, Naik H, Mistry P, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2021, 132: s39. PMCID: PMC7849572, DOI: 10.1016/j.ymgme.2020.12.077.
- Schiffmann R, Cox T, Dedieu J, Gaemers S, Hennermann J, Ida H, Mengel E, Mistry P, Musholt P, Sharma J, Zhang B, Peterschmitt J. Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3. Molecular Genetics And Metabolism 2021, 132: s95. DOI: 10.1016/j.ymgme.2020.12.229.
- Mistry P, Thurberg B, Grabowski G. Lysosomal Storage Disorders in Children. 2021, 570-592. DOI: 10.1017/9781108918978.032.
- Weinreb NJ, Camelo JS, Charrow J, McClain MR, Mistry P, Belmatoug N, investigators F. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Molecular Genetics And Metabolism 2021, 132: 100-111. PMID: 33485799, DOI: 10.1016/j.ymgme.2020.12.295.
- Grabowski GA, Antommaria AHM, Kolodny EH, Mistry PK. Gaucher disease: Basic and translational science needs for more complete therapy and management. Molecular Genetics And Metabolism 2020, 132: 59-75. PMID: 33419694, PMCID: PMC8809485, DOI: 10.1016/j.ymgme.2020.12.291.
- Fierro L, Nesheiwat N, Naik H, Narayanan P, Mistry PK, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2020, 132: 44-48. PMID: 33353808, PMCID: PMC7834197, DOI: 10.1016/j.ymgme.2020.12.288.
- El-Beshlawy A, Eid K, AbdelSalam A, Mohamed F, Selim Y, Gebril N, Fateen E, Mistry P. Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades. Blood 2020, 136: 21-22. DOI: 10.1182/blood-2020-141776.
- Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Molecular Genetics And Metabolism 2020, 131: 116-123. PMID: 32616389, DOI: 10.1016/j.ymgme.2020.06.008.
- Mistry PK, Balwani M, Charrow J, Kishnani P, Niederau C, Underhill LH, McClain MR. Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2020, 95: 1038-1046. PMID: 32438452, PMCID: PMC7497238, DOI: 10.1002/ajh.25875.
- Narayanan P, Mistry PK. Update on Alpha‐1 Antitrypsin Deficiency in Liver Disease. Clinical Liver Disease 2020, 15: 228-235. PMID: 32617155, PMCID: PMC7326637, DOI: 10.1002/cld.896.
- Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular Genetics And Metabolism 2020, 130: 164-169. PMID: 32471800, PMCID: PMC7211677, DOI: 10.1016/j.ymgme.2020.05.002.
- Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson‐Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 2020, 71: 1879-1882. PMID: 31863603, PMCID: PMC8577800, DOI: 10.1002/hep.31087.
- Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.
- Mistry P, Lukina E, Turkia H, Shankar S, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster M, Gaemers S, Peterschmitt M. Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial. Molecular Genetics And Metabolism 2020, 129: s110-s111. DOI: 10.1016/j.ymgme.2019.11.284.
- Eid K, McClain M, Mengel E, Mistry P, Baris-Feldman H. Delineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality. Molecular Genetics And Metabolism 2020, 129: s52-s53. DOI: 10.1016/j.ymgme.2019.11.117.
- Schiffmann R, Cox T, Ida H, Mengel E, Mistry P, Crawford N, Gaemers S, Ji A, Peterschmitt M, Sharma J, Zhang Q, Fischer T. Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3. Molecular Genetics And Metabolism 2020, 129: s144-s145. DOI: 10.1016/j.ymgme.2019.11.382.
- Boddupalli V, Nair S, Belinsky G, Mehta S, Mistry P. Delineating the role of myeloid cells and brain microglia in Gaucher disease. Molecular Genetics And Metabolism 2020, 129: s31. DOI: 10.1016/j.ymgme.2019.11.054.
- Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarere J, Berger MG. Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 2020, 106: 437-445. PMID: 32001533, PMCID: PMC7849573, DOI: 10.3324/haematol.2019.236083.
- Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2020, 2115-2120. DOI: 10.1093/med/9780198746690.003.0234.
- Drelichman G, Castañeda‐Hernández G, Ar M, Dragosky M, Garcia R, Lee H, Moiseev S, Naderi M, Rosenbaum H, Žnidar I, Zuluaga AF, Freisens S, Mistry PK. The road to biosimilars in rare diseases ‐ ongoing lessons from Gaucher disease. American Journal Of Hematology 2019, 95: 233-237. PMID: 31816110, PMCID: PMC7027782, DOI: 10.1002/ajh.25701.
- Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.
- Weinreb N, Cox T, Mistry P, Charrow J, Lukina E, Foster M, Peterschmitt M. Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials. Blood 2019, 134: 4859. DOI: 10.1182/blood-2019-127337.
- Olave MC, Gurung A, Mistry PK, Kakar S, Yeh M, Xu M, Wu TT, Torbenson M, Jain D. Etiology of cirrhosis in the young. Human Pathology 2019, 96: 96-103. PMID: 31698008, DOI: 10.1016/j.humpath.2019.09.015.
- Hakim A, Mistry PK, Vilarinho S. Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”. Journal Of Hepatology 2019, 71: 850-851. PMID: 31378425, DOI: 10.1016/j.jhep.2019.07.005.
- Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. Molecular Genetics And Metabolism 2019, 128: 62-67. PMID: 31358474, PMCID: PMC6864269, DOI: 10.1016/j.ymgme.2019.07.014.
- Goobie GC, Sirrs SM, Yee J, English JC, Bergeron C, Nador R, Swiston JR, Mistry PK, Paquin W, Levy RD. Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. Respiratory Medicine Case Reports 2019, 28: 100893. PMID: 31334026, PMCID: PMC6624456, DOI: 10.1016/j.rmcr.2019.100893.
- Beshlawy AE, Murugesan V, Mistry PK, Eid K. Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy. Molecular Genetics And Metabolism Reports 2019, 20: 100490. PMID: 31309038, PMCID: PMC6606832, DOI: 10.1016/j.ymgmr.2019.100490.
- Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.
- Goobie G, Sirrs S, Yee J, English J, Bergeron C, Nador R, Swiston J, Mistry P, Paquin W, Levy R. Lung Transplantation in a Patient with Gaucher Disease Type 1: A Case Report and Review of the Literature. 2019, a6253-a6253. DOI: 10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6253.
- Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.
- Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Molecules And Diseases 2019, 77: 101-102. PMID: 31029022, DOI: 10.1016/j.bcmd.2019.04.003.
- Mistry P, Balwani M, Charrow J, Kishnani P, Niederau C, McClain M. Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry. Molecular Genetics And Metabolism 2019, 126: s100-s101. DOI: 10.1016/j.ymgme.2018.12.252.
- Cox T, Charrow J, Lukina E, Mistry P, Marinakis T, Foster M, Gaemers S, Peterschmitt M. Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment. Molecular Genetics And Metabolism 2019, 126: s43. DOI: 10.1016/j.ymgme.2018.12.091.
- Mistry P, Charrow J, Cox T, Lukina E, Marinakis T, Foster M, Gaemers S, Peterschmitt J. Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials. Blood 2018, 132: 2396. DOI: 10.1182/blood-2018-99-117289.
- Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Molecular Genetics And Metabolism 2018, 126: 98-105. PMID: 30514648, PMCID: PMC7249497, DOI: 10.1016/j.ymgme.2018.11.014.
- Medenica S, Vujosevic S, Vujicic V, Dapcevic M, Bakic N, Ruby Y, Liu J, Mistry P. First report of Gaucher disease in Montenegro: Genotype/phenotype correlations. Endocrine Abstracts 2018 DOI: 10.1530/endoabs.56.p282.
- Nair S, Sng J, Boddupalli CS, Seckinger A, Chesi M, Fulciniti M, Zhang L, Rauniyar N, Lopez M, Neparidze N, Parker T, Munshi NC, Sexton R, Barlogie B, Orlowski R, Bergsagel L, Hose D, Flavell RA, Mistry PK, Meffre E, Dhodapkar MV. Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight 2018, 3: e98259. PMID: 29669929, PMCID: PMC5931125, DOI: 10.1172/jci.insight.98259.
- Weinreb NJ, Mistry PK, Rosenbloom BE, Dhodapkar MV. MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association. Blood 2018, 131: 2500-2501. PMID: 29650800, PMCID: PMC5981170, DOI: 10.1182/blood-2018-02-834689.
- Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Molecules And Diseases 2018, 71: 71-74. PMID: 29680197, DOI: 10.1016/j.bcmd.2018.04.001.
- Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.
- Puri R, Kapoor S, Kishnani P, Dalal A, Gupta N, Muranjan M, Phadke S, Sachdeva A, Verma I, Mistry P, Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics 2018, 55: 143-153. PMID: 29503270, DOI: 10.1007/s13312-018-1249-9.
- Cox TM, Mistry PK. Therapeutic position of eliglustat. Blood Cells Molecules And Diseases 2017, 69: 117-118. PMID: 29187290, DOI: 10.1016/j.bcmd.2017.11.001.
- Mistry PK, Lukina E, Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American Journal Of Hematology 2017, 92: 1170-1176. PMID: 28762527, PMCID: PMC5656936, DOI: 10.1002/ajh.24877.
- Taguchi YV, Liu J, Ruan J, Pacheco J, Zhang X, Abbasi J, Keutzer J, Mistry PK, Chandra SS. Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease. Journal Of Neuroscience 2017, 37: 9617-9631. PMID: 28847804, PMCID: PMC5628407, DOI: 10.1523/jneurosci.1525-17.2017.
- Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. American Journal Of Hematology 2017, 92: 929-939. PMID: 28569047, PMCID: PMC5600096, DOI: 10.1002/ajh.24801.
- Raskovalova T, Deegan PB, Yang R, Pavlova E, Stirnemann J, Labarère J, Zimran A, Mistry PK, Berger M. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Systematic Reviews 2017, 6: 87. PMID: 28427477, PMCID: PMC5397740, DOI: 10.1186/s13643-017-0483-x.
- McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics In Medicine 2017, 19: 967-974. PMID: 28406489, PMCID: PMC5589980, DOI: 10.1038/gim.2017.7.
- Nair S, Sng J, Zhang L, Branagan A, Liu J, Boddupalli C, Meffre E, Mistry P, Dhodapkar M. Association of lysolipids with Gaucher disease - associated and sporadic gammopathies. Molecular Genetics And Metabolism 2017, 120: s100. DOI: 10.1016/j.ymgme.2016.11.251.
- Weinreb N, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, Kaplan P, Khan A, Kishnani P, Kolodny E, Rosenbloom B, Scott C, Mistry P. Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2017, 120: s139. DOI: 10.1016/j.ymgme.2016.11.368.
- Mistry P, Lukina E, Turkia H, Shankar S, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Wu Y, Gaemers S, Peterschmitt M. Long-term results of ENGAGE: a phase 3, randomized, double‑blind, placebo-controlled, multi‑center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease. Molecular Genetics And Metabolism 2017, 120: s97-s98. DOI: 10.1016/j.ymgme.2016.11.243.
- Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Mengel E, Mistry P, Schuchman E, McGovern M. Consensus recommendation on a diagnostic guideline for acid sphingomyelinase deficiency. Molecular Genetics And Metabolism 2017, 120: s138. DOI: 10.1016/j.ymgme.2016.11.366.
- Taguchi Y, Liu J, Ruan J, Pacheco J, Zhang X, Abbasi J, Keutzer J, Mistry P, Chandra S. Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease. Molecular Genetics And Metabolism 2017, 120: s129. DOI: 10.1016/j.ymgme.2016.11.338.
- Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Blood Cells Molecules And Diseases 2016, 68: 47-53. PMID: 28003098, PMCID: PMC5468511, DOI: 10.1016/j.bcmd.2016.12.002.
- El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2016, 120: 47-56. PMID: 28040394, DOI: 10.1016/j.ymgme.2016.12.001.
- Mistry P, Weinreb N, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, Kaplan P, Khan A, Kishnani P, Kolodny E, Rosenbloom B, Scott C. Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry. Blood 2016, 128: 4877. DOI: 10.1182/blood.v128.22.4877.4877.
- Sack J, Peaper DR, Mistry P, Malinis M. Clinical implications of Paracoccus yeeii bacteremia in a patient with decompensated cirrhosis. IDCases 2016, 7: 9-10. PMID: 27920982, PMCID: PMC5133649, DOI: 10.1016/j.idcr.2016.11.008.
- Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Molecular Genetics And Metabolism 2016, 120: 8-21. PMID: 27916601, PMCID: PMC5425955, DOI: 10.1016/j.ymgme.2016.11.006.
- Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Molecular Genetics And Metabolism 2016, 120: 1-7. PMID: 27866832, DOI: 10.1016/j.ymgme.2016.10.010.
- Murugesan V, Chuang W, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. American Journal Of Hematology 2016, 91: 1082-1089. PMID: 27441734, PMCID: PMC5234703, DOI: 10.1002/ajh.24491.
- Cohen IJ, Baris H, Mistry PK, Sands MS. Overcoming the Next Barriers to Successful Therapy. Pediatric Endocrinology Reviews : PER 2016, 13 Suppl 1: 629. PMID: 27491209.
- Murugesan V, Lischuk A, Haims A, Lackman R, Brooks JS, Mankin H, Mistry PK. Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population. American Journal Of Hematology 2016, 91: 736-741. PMID: 27102845, DOI: 10.1002/ajh.24398.
- Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. JIMD Reports 2016, 31: 15-27. PMID: 27008195, PMCID: PMC5388645, DOI: 10.1007/8904_2016_548.
- Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurology Genetics 2016, 2: &na;. PMID: 27123476, PMCID: PMC4830189, DOI: 10.1212/nxg.0000000000000057.
- Nair S, Branagan AR, Liu J, Boddupalli CS, Mistry PK, Dhodapkar MV. Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. New England Journal Of Medicine 2016, 374: 555-561. PMID: 26863356, PMCID: PMC4804194, DOI: 10.1056/nejmoa1508808.
- Weinreb N, Cox T, Lukina E, Mistry P, Angell J, Gaemers S, Peterschmitt M. Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials. Blood 2015, 126: 884. DOI: 10.1182/blood.v126.23.884.884.
- Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. The Role of ARF6 in Biliary Atresia. PLOS ONE 2015, 10: e0138381. PMID: 26379158, PMCID: PMC4574480, DOI: 10.1371/journal.pone.0138381.
- Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Molecular Genetics And Metabolism 2015, 117: 95-103. PMID: 26387627, DOI: 10.1016/j.ymgme.2015.09.002.
- Mistry PK, Belmatoug N, vom Dahl S, Giugliani R. Understanding the natural history of Gaucher disease. American Journal Of Hematology 2015, 90: s6-s11. PMID: 26096746, DOI: 10.1002/ajh.24055.
- Gurung A, Mistry P, Kakar S, Yeh M, Wu T, Torbenson M, Jain D. 806 Etiology of Cirrhosis in the Young. Gastroenterology 2015, 148: s-997. DOI: 10.1016/s0016-5085(15)33406-5.
- Do A, Lim J, Liapakis A, Babas G, Caldwell C, Fortune B, Emre S, Kulkarni S, Lempit S, Mistry P, Mulligan D, Rodriguez-Davalos M, Schilsky M, Tichy E, Yoo P, Jakab S. Tu1044 Sofosbuvir-Based Interferon-Free Regimens for Hepatitis C Infection in Patients With Compensated and Decompensated Cirrhosis: Interim Analysis of a Prospective Observational Cohort. Gastroenterology 2015, 148: s-1094-s-1095. DOI: 10.1016/s0016-5085(15)33733-1.
- Mistry PK, Lukina E, Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial. JAMA 2015, 313: 695-706. PMID: 25688781, PMCID: PMC4962880, DOI: 10.1001/jama.2015.459.
- Kim J, Cintron D, Groden C, Wiggs E, Davis J, Mistry P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E, Lopez G. Gaucher disease and Parkinsonism: Clinical course and prognosis. Molecular Genetics And Metabolism 2015, 114: s62. DOI: 10.1016/j.ymgme.2014.12.130.
- Mistry P, Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Ortega A, Shankar S, Solano M, Ross L, Angell J, Peterschmitt M. ENGAGE — A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: Results after 18months. Molecular Genetics And Metabolism 2015, 114: s81-s82. DOI: 10.1016/j.ymgme.2014.12.179.
- Nair S, Boddupalli CS, Verma R, Liu J, Yang R, Pastores GM, Mistry PK, Dhodapkar MV. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood 2014, 125: 1256-1271. PMID: 25499455, PMCID: PMC4335081, DOI: 10.1182/blood-2014-09-600270.
- Nair S, Boddupalli C, Verma R, Liu J, Ruhua Y, Pastores G, Mistry P, Dhodapkar M. Type II NKT-TFH Cells Against Gaucher Lipids Regulate B Cell Immunity and Inflammation. Blood 2014, 124: 755. DOI: 10.1182/blood.v124.21.755.755.
- Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ortega A, Shankar S, Solano M, Ross L, Angell J, Peterschmitt J. Engage - a Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Eliglustat in Adults with Gaucher Disease Type 1: Results after 18 Months. Blood 2014, 124: 2732. DOI: 10.1182/blood.v124.21.2732.2732.
- Cohen IJ, Baris HN, Mistry PK, Sands MS. Treatment for Lsds: real options for several diseases. Forward. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 71. PMID: 25345087.
- Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 72-81. PMID: 25345088, PMCID: PMC4520262.
- Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
- Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 4934-4939. PMID: 24639522, PMCID: PMC3977292, DOI: 10.1073/pnas.1400768111.
- Barranger JA, Brady RO, Grabowski GA, Mankin H, Mistry PK, Weinreb NJ. Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014. American Journal Of Hematology 2014, 89: 457-458. PMID: 24488939, DOI: 10.1002/ajh.23687.
- Shankar S, Lukina E, Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ross L, Marulkar S, Peterschmitt M. Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results. Blood 2013, 122: 2275. DOI: 10.1182/blood.v122.21.2275.2275.
- Cohen IJ, Baris H, Mistry PK. Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword. Pediatric Endocrinology Reviews : PER 2013, 11 Suppl 1: 58. PMID: 24380122.
- Cheng SX, Bai HX, Gonzalez‐Peralta R, Mistry PK, Gorelick FS. Calcium Ameliorates Diarrhea in Immunocompromised Children. Journal Of Pediatric Gastroenterology And Nutrition 2013, 56: 641-644. PMID: 23343935, PMCID: PMC4448079, DOI: 10.1097/mpg.0b013e3182868946.
- Mistry P, Lukina E, Dridi M, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Peterschmitt M. A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9months of treatment. Molecular Genetics And Metabolism 2013, 108: s66-s67. DOI: 10.1016/j.ymgme.2012.11.171.
- Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. American Journal Of Human Genetics 2013, 92: 245-251. PMID: 23332917, PMCID: PMC3567281, DOI: 10.1016/j.ajhg.2012.12.012.
- Mistry PK. Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy. Hepatology 2013, 57: 2100-2102. PMID: 23080135, DOI: 10.1002/hep.26106.
- Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Reviews™ In Oncogenesis 2013, 18: 235-246. PMID: 23510066, PMCID: PMC4437216, DOI: 10.1615/critrevoncog.2013006145.
- Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.
- Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK. Gaucher disease gene GBA functions in immune regulation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 10018-10023. PMID: 22665763, PMCID: PMC3382552, DOI: 10.1073/pnas.1200941109.
- Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clinical Advances In Hematology And Oncology 2012, 10: 1-16. PMID: 22895100.
- Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical And Biophysical Research Communications 2012, 422: 573-577. PMID: 22588172, PMCID: PMC3377787, DOI: 10.1016/j.bbrc.2012.05.027.
- H. M, Bai HX, Park AJ, Latif SU, Mistry PK, Pashankar D, Northrup VS, Bhandari V, Husain SZ. Risk Factors Associated With Biliary Pancreatitis in Children. Journal Of Pediatric Gastroenterology And Nutrition 2012, 54: 651-656. PMID: 22002481, PMCID: PMC3626418, DOI: 10.1097/mpg.0b013e31823a897d.
- Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.
- Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American Journal Of Hematology 2012, 87: 377-383. PMID: 22388998, PMCID: PMC3684025, DOI: 10.1002/ajh.23118.
- Khan A, Hangartner T, Weinreb N, Taylor J, Mistry P. Risk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry. Molecular Genetics And Metabolism 2012, 105: s39-s40. DOI: 10.1016/j.ymgme.2011.11.091.
- Mistry P, Kolodny E, Tylki-Szymanska A, Belmatoug N, Cabello J, Vellodi A, Cole J, Grabowski G. Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry. Molecular Genetics And Metabolism 2012, 105: s46-s47. DOI: 10.1016/j.ymgme.2011.11.115.
- Pastores G, Rosenbloom B, Weinreb N, Goker-Alpan O, Mardach R, Lipson M, Ibrahim J, Cohn G, Zahrieh D, Mistry P. Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058. Blood 2011, 118: 1101. DOI: 10.1182/blood.v118.21.1101.1101.
- Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, Puri RD, Gupta N, Kishnani PS, Mistry PK. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatrics 2011, 48: 779. PMID: 22080680, DOI: 10.1007/s13312-011-0128-4.
- Bisariya V, Mistry P, Liu J, Chaudhari M, Gupta N, Kabra M. The mutation spectrum in Indian patients with Gaucher disease. Genome Biology 2011, 12: p26. DOI: 10.1186/1465-6906-12-s1-p26.
- Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.
- Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011, 118: e118-e127. PMID: 21868580, PMCID: PMC3685900, DOI: 10.1182/blood-2011-05-352971.
- Mistry P, Jain D. Haematological Disorders of the Liver. 2011, 48-69. DOI: 10.1002/9781444341294.ch4.
- Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.
- Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. Journal Of Inherited Metabolic Disease 2011, 34: 429-437. PMID: 21290183, PMCID: PMC3186206, DOI: 10.1007/s10545-010-9271-7.
- Lo S, Liu J, Pastores G, Knowles J, Boxer M, Korson M, Alec K, Mistry P. Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes. Molecular Genetics And Metabolism 2011, 102: s25-s26. DOI: 10.1016/j.ymgme.2010.11.086.
- Mistry P, Liu J, Blair H, Keutzer J, Zhang K, Sun L, Zaidi M. GBA1 deficient mice recapitulates Gaucher disease displaying system-wide cellular and molecular dysregulation beyond the macrophage. Molecular Genetics And Metabolism 2011, 102: s30. DOI: 10.1016/j.ymgme.2010.11.101.
- Bisariya V, Mistry P, Liu J, Chaudhari M, Gupta N, Kabra M. The mutation spectrum in Indian patients with Gaucher disease. Genome Biology 2011, 12: p26. PMCID: PMC3439070, DOI: 10.1186/gb-2011-12-s1-p26.
- Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Molecules And Diseases 2010, 46: 66-72. PMID: 21112800, PMCID: PMC3019260, DOI: 10.1016/j.bcmd.2010.10.011.
- Mistry PK, Cappellini MD, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G. A reappraisal of Gaucher disease—diagnosis and disease management algorithms. American Journal Of Hematology 2010, 86: 110-115. PMID: 21080341, PMCID: PMC3058841, DOI: 10.1002/ajh.21888.
- Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 19473-19478. PMID: 20962279, PMCID: PMC2984187, DOI: 10.1073/pnas.1003308107.
- Lo SM, McNamara J, Seashore MR, Mistry PK. Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 429-433. PMID: 20882348, PMCID: PMC3053412, DOI: 10.1007/s10545-010-9214-3.
- Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.
- Ayto RM, Hughes DA, Jeevaratnam P, Rolles K, Burroughs AK, Mistry PK, Mehta AB, Pastores GM. Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease. American Journal Of Transplantation 2010, 10: 1934-1939. PMID: 20659098, DOI: 10.1111/j.1600-6143.2010.03168.x.
- Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.
- Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Current Opinion In Organ Transplantation 2010, 15: 269-276. PMID: 20489626, DOI: 10.1097/mot.0b013e3283399dbd.
- Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2010, 1688-1693. DOI: 10.1093/med/9780199204854.003.120702.
- Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype. American Journal Of Hematology 2010, 85: 340-345. PMID: 20425796, PMCID: PMC2875938, DOI: 10.1002/ajh.21684.
- Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 291-300. PMID: 20354791, PMCID: PMC3008397, DOI: 10.1007/s10545-010-9070-1.
- Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson's disease in type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 167-173. PMID: 20177787, PMCID: PMC2887303, DOI: 10.1007/s10545-010-9055-0.
- Stein P, Mistry P. 130. The significance of focal splenic lesions (FSL) in Gaucher disease (GD1). Molecular Genetics And Metabolism 2010, 99: s35. DOI: 10.1016/j.ymgme.2009.10.147.
- Lo S, Stein P, Yang R, Mistry P. 83. Occurrence of multiple cancers in type 1 Gaucher disease (GD1). Molecular Genetics And Metabolism 2010, 99: s25. DOI: 10.1016/j.ymgme.2009.10.100.
- Hůlková H, Poupětová H, Harzer K, Mistry P, Aerts JM, Elleder M. Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries. Journal Of Inherited Metabolic Disease 2010, 33: 69-78. PMID: 20049530, PMCID: PMC2828558, DOI: 10.1007/s10545-009-9018-5.
- Mistry P, Deegan P, Vellodi A, Cole J, Yeh M, Weinreb N. Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease. Blood 2009, 114: 1353. DOI: 10.1182/blood.v114.22.1353.1353.
- Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. British Journal Of Haematology 2009, 147: 561-570. PMID: 19732054, PMCID: PMC2774157, DOI: 10.1111/j.1365-2141.2009.07872.x.
- Shah AU, Sarwar A, Orabi AI, Gautam S, Grant WM, Park AJ, Shah AU, Liu J, Mistry PK, Jain D, Husain SZ. Protease activation during in vivo pancreatitis is dependent on calcineurin activation. AJP Gastrointestinal And Liver Physiology 2009, 297: g967-g973. PMID: 20501444, PMCID: PMC2777459, DOI: 10.1152/ajpgi.00181.2009.
- Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: Resetting the clinical and scientific agenda. American Journal Of Hematology 2009, 84: 205-207. PMID: 19296473, PMCID: PMC2999876, DOI: 10.1002/ajh.21384.
- Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.
- Weinreb N, Deegan P, Vellodi A, Cole J, Yeh M, Mistry P. 149. Avascular Necrosis in type I Gaucher disease: Analysis of risk factors. Molecular Genetics And Metabolism 2009, 96: s45. DOI: 10.1016/j.ymgme.2008.11.150.
- Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genetics In Medicine 2009, 11: 92-100. PMID: 19265748, PMCID: PMC3793250, DOI: 10.1097/gim.0b013e31818e2c19.
- Mistry P. Hematologic algorithms in Gaucher disease: Outcomes from an International Meeting. Clinical Therapeutics 2009, 31: s173-s174. DOI: 10.1016/s0149-2918(09)00421-4.
- Schilsky M, Mistry P. Chapter 42 Wilson Disease and the Kidney. 2009, 709-713. DOI: 10.1016/b978-0-12-449851-8.00042-5.
- vom Dahl S, Mistry P, Schuetz S, Poll L. Preventing the irreversible: Time to avascular necrosis, treatment intervention, and bone management guidelines in Gaucher disease. Clinical Therapeutics 2009, 31: s186-s187. DOI: 10.1016/s0149-2918(09)80016-7.
- Mistry P, Cappellini M, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman N, Massenkeil G. Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists. Blood 2008, 112: 4648. DOI: 10.1182/blood.v112.11.4648.4648.
- Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S. Life expectancy in Gaucher disease type 1. American Journal Of Hematology 2008, 83: 896-900. PMID: 18980271, PMCID: PMC3743399, DOI: 10.1002/ajh.21305.
- DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease. American Journal Of Roentgenology 2008, 191: 115-23. PMID: 18562733, PMCID: PMC3731993, DOI: 10.2214/ajr.07.3550.
- Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki‐Szymanska A, Yee J, Weinreb N. Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal Of Inherited Metabolic Disease 2008, 31: 319-336. PMID: 18509745, DOI: 10.1007/s10545-008-0779-z.
- Taddei T, Mistry P, Schilsky ML. Inherited metabolic disease of the liver. Current Opinion In Gastroenterology 2008, 24: 278-286. PMID: 18408455, DOI: 10.1097/mog.0b013e3282fcbc0f.
- Gathungu GN, Pashankar DS, Sarita-Reyes CD, Zambrano E, Reyes-Mugica M, Brueckner M, Mistry PK, Husain SZ. Microvillus Inclusion Disease Associated With Coarctation of the Aorta and Bicuspid Aortic Valve. Journal Of Clinical Gastroenterology 2008, 42: 400-403. PMID: 18277898, DOI: 10.1097/01.mcg.0000225632.07039.b6.
- Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A. Prevalence of Type 1 Gaucher Disease in the United States. JAMA Internal Medicine 2008, 168: 326-327. PMID: 18268176, DOI: 10.1001/archinternmed.2007.128.
- Grabowski G, Kacena K, Hollak C, Zhang L, Yee J, Mistry P, Zimran A, Charrow J, vom Dahl S. 36. Dose–response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type I. Molecular Genetics And Metabolism 2008, 93: 23. DOI: 10.1016/j.ymgme.2007.10.048.
- Carmack S, Taddei T, Robert ME, Mistry P, Jain D. Increased T-Cell Sinusoidal Lymphocytosis in Liver Biopsies in Patients With Chronic Hepatitis C and Mixed Cryoglobulinemia. The American Journal Of Gastroenterology 2007, 103: ajg200850138. PMID: 17970837, DOI: 10.1111/j.1572-0241.2007.01603.x.
- Mistry P, Germain D. Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease. La Revue De Médecine Interne 2007, 28: 171-175. PMID: 18228683, DOI: 10.1016/s0248-8663(07)78876-8.
- Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention. American Journal Of Hematology 2007, 82: 697-701. PMID: 17492645, DOI: 10.1002/ajh.20908.
- Mistry P. Comprehensive Disease Management Model in Heterogeneous Progressive Disease, Exemplified by Gaucher Disease. Clinical Therapeutics 2007, 29: s79-s80. DOI: 10.1016/s0149-2918(07)80456-5.
- Mistry P, Sadan S, Yang R, Yee J, Yang M. Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. Blood 2006, 108: 3308. DOI: 10.1182/blood.v108.11.3308.3308.
- Mistry P, El-Beshlawy A, Raghab L, El-Motelab L, Azim K, Samir M, Fatin E, Yang R, Yang M. CHARACTERIZATION OF A LARGE COHORT OF EGYPTIAN CHILDREN WITH GAUCHER DISEASE. Journal Of Pediatric Gastroenterology And Nutrition 2006, 43: e15-e16. DOI: 10.1097/00005176-200610000-00034.
- Mistry P, El‐Beshlawy A, Raghab L, El‐Motelab L, Azim K, Samir M, Fatin E, Yang R, Yang M. CHARACTERIZATION OF A LARGE COHORT OF EGYPTIAN CHILDREN WITH GAUCHER DISEASE. Journal Of Pediatric Gastroenterology And Nutrition 2006, 43: e15-e16. DOI: 10.1002/j.1536-4801.2006.tb13749.x.
- Germain D, Mistry P. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s7-s10. DOI: 10.1016/s0248-8663(06)80003-2.
- Mistry P, Germain D. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s34-s38. DOI: 10.1016/s0248-8663(06)80010-x.
- Mistry P, Germain DP. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s3-s6. PMID: 16644399, DOI: 10.1016/s0248-8663(06)80002-0.
- Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.
- El‐Beshlawy A, Ragab L, Youssry I, Yakout K, El‐Kiki H, Eid K, Mansour IM, El‐Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal Of Inherited Metabolic Disease 2006, 29: 92-98. PMID: 16601874, DOI: 10.1007/s10545-006-0121-6.
- Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American Journal Of Hematology 2005, 80: 223-229. PMID: 16247743, DOI: 10.1002/ajh.20504.
- Xu R, Mistry P, Mckenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel M. Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature. Seminars In Liver Disease 2005, 25: 226-229. PMID: 15918150, DOI: 10.1055/s-2005-871201.
- Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics In Medicine 2005, 7: 105-110. PMID: 15714077, DOI: 10.1097/01.gim.0000153660.88672.3c.
- Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Therapeutic goals in the treatment of Gaucher disease. Seminars In Hematology 2004, 41: 4-14. PMID: 15468045, DOI: 10.1053/j.seminhematol.2004.07.009.
- Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A. Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients. Seminars In Hematology 2004, 41: 15-22. PMID: 15468046, DOI: 10.1053/j.seminhematol.2004.07.010.
- Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. The Journal Of Pediatrics 2004, 144: 112-120. PMID: 14722528, DOI: 10.1016/j.jpeds.2003.10.067.
- Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics And Metabolism 2002, 77: 91-98. PMID: 12359135, DOI: 10.1016/s1096-7192(02)00122-1.
- Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.
- Sirrs S, Irving J, McCauley G, Gin K, Munt B, Pastores G, Mistry P. Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease. Journal Of Inherited Metabolic Disease 2002, 25: 131-132. PMID: 12118528, DOI: 10.1023/a:1015680827730.
- Nagral A, Quaglia A, Sabin CA, Dhillon AP, Bearcroft CP, Millar A, Davies SE, Mistry PK, Davidson BR, Rolles K, Burroughs AK. Blood and graft eosinophils in acute cellular rejection of liver allografts. Transplantation Proceedings 2001, 33: 2588-2593. PMID: 11406255, DOI: 10.1016/s0041-1345(01)02105-4.
- Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.
- Butler P, McIntyre N, Mistry P. Molecular Diagnosis of Wilson Disease. Molecular Genetics And Metabolism 2001, 72: 223-230. PMID: 11243728, DOI: 10.1006/mgme.2000.3143.
- The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher DiseaseCharrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. JAMA Internal Medicine 2000, 160: 2835-2843. PMID: 11025794, DOI: 10.1001/archinte.160.18.2835.
- Gu M, Cooper J, Butler P, Walker A, Mistry P, Dooley J, Schapira A. Oxidative-phosphorylation defects in liver of patients with Wilson's disease. The Lancet 2000, 356: 469-474. PMID: 10981891, DOI: 10.1016/s0140-6736(00)02556-3.
- Mistry P. Treatment of Gaucher's disease with OGT 918. The Lancet 2000, 356: 676. PMID: 10968454, DOI: 10.1016/s0140-6736(00)02618-0.
- Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. American Journal Of Human Genetics 2000, 66: 1821-32. PMID: 10777718, PMCID: PMC1378046, DOI: 10.1086/302946.
- Schilsky M, Mistry P. Inherited metabolic disease. Current Opinion In Gastroenterology 2000, 16: 219-230. PMID: 17023879, DOI: 10.1097/00001574-200005000-00004.
- Scott C, Pastores G, Andersson H, Charrow J, Kaplan P, Kolodny E, Mistry P, Rosenbloom B, Wappner R, Weinreb N. The clinical expression of Gaucher disease correlates with genotype: Data from 570 patients. Genetics In Medicine 2000, 2: 65-65. DOI: 10.1097/00125817-200001000-00059.
- Scott C, Pastores G, Andersson H, Charrow J, Kaplan P, Kolodny E, Mistry P, Rosenbloom B, Wappner R, Weinreb N. The clinical expression of Gaucher disease correlates with genotype. Genetics In Medicine 2000, 2: 65. DOI: 10.1097/00125817-200001000-00058.
- Papatheodoridis G, O'Beirne J, Mistry P, Davidson B, Rolles K, Burroughs A. MYCOPHENOLATE MOFETIL MONOTHERAPY IN STABLE LIVER TRANSPLANT PATIENTS WITH CYCLOSPORINE-INDUCED RENAL IMPAIRMENT. Transplantation 1999, 68: 155-157. PMID: 10428285, DOI: 10.1097/00007890-199907150-00029.
- Diaz G, Gelb B, Risch N, Nygaard T, Maire I, Poenaru L, Caillaud C, Sa Miranda C, Amaral O, Mistry P, Desnick R. Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation. Pediatric Research 1999, 45: 137-137. DOI: 10.1203/00006450-199904020-00814.
- Nitu IC, Lee CA, Dhillon AP, Mistry PK. Management of liver failure in a haemophilic patient co‐infected with human immunodeficiency and hepatitis C viruses. International Journal Of Laboratory Hematology 1999, 21: 139-142. PMID: 10342075, DOI: 10.1046/j.1365-2257.1999.00198.x.
- Mistry PK. Gaucher's disease: a model for modern management of a genetic disease. Journal Of Hepatology 1999, 30 Suppl 1: 1-5. PMID: 10370894.
- Papatheodoridis GV, Hamilton M, Mistry PK, Davidson B, Rolles K, Burroughs AK. Ulcerative colitis has an aggressive course after orthotopic liver transplantation for primary sclerosing cholangitis. Gut 1998, 43: 639. PMID: 9824344, PMCID: PMC1727300, DOI: 10.1136/gut.43.5.639.
- van 't Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV. Combined liver-kidney transplantation in methylmalonic acidemia. The Journal Of Pediatrics 1998, 132: 1043-1044. PMID: 9627602, DOI: 10.1016/s0022-3476(98)70407-x.
- Gordon FH, Mistry PK, Sabin CA, Lee CA. Outcome of orthotopic liver transplantation in patients with haemophilia. Gut 1998, 42: 744. PMID: 9659174, PMCID: PMC1727096, DOI: 10.1136/gut.42.5.744.
- Mistry P, Abrahamov A. 12 A practical approach to diagnosis and management of Gaucher's disease. Best Practice & Research Clinical Haematology 1997, 10: 817-838. PMID: 9497866, DOI: 10.1016/s0950-3536(97)80042-x.
- Mistry P, Wraight E, Cox T. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. The Lancet 1996, 348: 1555-1559. PMID: 8950883, DOI: 10.1016/s0140-6736(96)04451-0.
- Byrne CD, Wareham NJ, Mistry PK, Phillips D, Martensz ND, Halsall D, Talmud PJ, Humphries SE, Hales CN. The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide. Atherosclerosis 1996, 127: 35-42. PMID: 9006802, DOI: 10.1016/s0021-9150(96)05932-1.
- Partridge J, Wallace D, Mistry P, Walker A, Dooley J. Macrophage Ferric Reductase is Not a Marker for Genetic Haemochromatosis. Clinical Science 1996, 91: 8p-8p. DOI: 10.1042/cs091008p.
- Newman C, Bruun B, Porter K, Mistry P, Shanahan C, Weissberg P. Osteopontin Is Not a Marker for Proliferating Human Vascular Smooth Muscle Cells. Arteriosclerosis Thrombosis And Vascular Biology 1995, 15: 2010-2018. PMID: 7583583, DOI: 10.1161/01.atv.15.11.2010.
- Mistry PK. Genotype/phenotype correlations in Gaucher's disease. Lancet 1995, 346: 982-3. PMID: 7475586, DOI: 10.1016/s0140-6736(95)91680-6.
- NEWMAN CM, BRUUN BC, MISTRY PK, WEISSBERG PL, SHANAHAN CM. High Expression of Osteopontin mRNA in Human Macrophages but Not Human Vascular Smooth Muscle Cells in Culture. Annals Of The New York Academy Of Sciences 1995, 760: 381-382. PMID: 7785923, DOI: 10.1111/j.1749-6632.1995.tb44663.x.
- Newman C, Bruun B, Mistry P, Weissberg P, Shanahan C. Osteopontin is Highly Expressed in Human Macrophages but Not Human Vascular Smooth Muscle Cells in Culture. Clinical Science 1995, 88: 29p-29p. DOI: 10.1042/cs088029pa.
- Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. Journal Of Medical Genetics 1993, 30: 889. PMID: 8301642, PMCID: PMC1016594, DOI: 10.1136/jmg.30.11.889.
- Mistry PK, Davies S, Corfield A, Dixon AK, Cox TM. Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase. The Quarterly Journal Of Medicine 1992, 83: 541-6. PMID: 1484931.
- Mistry PK, Smith SJ, Ali M, Cox T, Hatton C, McIntyre N. Genetic diagnosis of Gaucher's disease. The Lancet 1992, 339: 889-892. PMID: 1348297, DOI: 10.1016/0140-6736(92)90928-v.
- Mistry P, Seymour CA. Primary biliary cirrhosis--from Thomas Addison to the 1990s. QJM 1992, 82: 185-96. PMID: 1631256.
- MISTRY P, VARGHESE Z, POUNDER RE. Short report: plasma aluminium concentration and 24‐hour urinary aluminium excretion before, during and after treatment with sucralfate. Alimentary Pharmacology & Therapeutics 1991, 5: 549-553. PMID: 1793786, DOI: 10.1111/j.1365-2036.1991.tb00524.x.
- Siringo S, McCormick PA, Mistry P, Kaye G, Mclntyre N, Burroughs AK. Prognostic significance of the white nipple sign in variceal bleeding. Gastrointestinal Endoscopy 1991, 37: 51-55. PMID: 2004684, DOI: 10.1016/s0016-5107(91)70621-4.
- NWOKOLO CU, MISTRY P, POUNDER RE. The absorption of bismuth and salicylate from oral doses of Pepto‐Bismol (bismuth salicylate). Alimentary Pharmacology & Therapeutics 1990, 4: 163-169. PMID: 2104082, DOI: 10.1111/j.1365-2036.1990.tb00461.x.
- McCormick PA, Mistry P, Kaye G, Burroughs AK, McIntyre N. Intravenous albumin infusion is an effective therapy for hyponatraemia in cirrhotic patients with ascites. Gut 1990, 31: 204. PMID: 2311979, PMCID: PMC1378381, DOI: 10.1136/gut.31.2.204.
- Nwokolo C, Mistry P, Sawyerr A, Smith J, Prewett E, Pounder R. Variable Absorption of Bismuth from Bismuth-Containing Salts Used in the Management of Peptic Ulceration. Clinical Science 1990, 78: 37p-37p. DOI: 10.1042/cs078037pc.
- Mistry P, Desai K, Burroughs A, Owen J. Abnormal apoe-rich denstty lipoproteins (HDL) in plasma of cirrhotic patients are potent inhibitors of platelet aggregation. Journal Of Hepatology 1989, 9: p6. DOI: 10.1016/0168-8278(89)90099-8.
- Desai K, Bagget C, Bellamy M, Mistry P, Burroughs A, Owen J. INHIBITION OF PLATELET AGGREGATION BY ABNORMAL HIGH DENSITY LIPOPROTEIN PARTICLES IN PLASMA FROM PATIENTS WITH HEPATIC CIRRHOSIS. The Lancet 1989, 333: 693-695. PMID: 2564508, DOI: 10.1016/s0140-6736(89)92207-1.
- Siringo S, McCormick P, Mistry P, Kaye G, Phillips A, Burroughs A. Prognostic significance of the variceal white nipple sign (platelet-fibrin plug) in acute variceal bleeding. Journal Of Hepatology 1989, 9: s228. DOI: 10.1016/0168-8278(89)90630-2.
- Owen JS, Goodall H, Mistry P, Harry DS, Day RC, McIntyre N. Abnormal high density lipoproteins from patients with liver disease regulate cholesterol metabolism in cultured human skin fibroblasts. Journal Of Lipid Research 1984, 25: 919-931. PMID: 6491539, DOI: 10.1016/s0022-2275(20)37730-0.
- Owen J, Mistry P, Goodall H, Chu P, Harry D, Day R, McIntyre N. Low Density Lipoprotein Binding by Cultured Human Skin Fibroblasts; the Inhibitory Effect of High-Density Lipoprotein from Patients with Liver Disease. Clinical Science 1981, 60: 20p-20p. DOI: 10.1042/cs060020p.
- Mistry P, Miller NE, Laker M, Hazzard WR, Lewis B. Individual variation in the effects of dietary cholesterol on plasma lipoproteins and cellular cholesterol homeostasis in man. Studies of low density lipoprotein receptor activity and 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in blood mononuclear cells. The Journal Of Clinical Investigation 1981, 67: 493-502. PMID: 6257763, PMCID: PMC370591, DOI: 10.1172/JCI110058.
- Turner P, Miller N, Chrystie I, Coltart J, Mistry P, Nicoll A, Lewis B. Splanchnic production of discoidal plasma high-density lipoprotein in man. Lancet 1979, 1: 645-6. PMID: 85875, DOI: 10.1016/s0140-6736(79)91083-3.
Locations
1
Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic
Lippard Lab for Clinical Investigation
15 York Street, Ste Klastskin Liver Service
New Haven, CT 06510
1 of 4
- Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease ClinicLippard Lab for Clinical Investigation15 York Street, Ste Klastskin Liver ServiceNew Haven, CT 06510
- Yale New Haven Transplantation Center - Rare DiseasesYale Physicians Building800 Howard Avenue, Fl 4th FloorNew Haven, CT 06519
- Yale Transplant Center; Long Ridge Medical CenterLong Ridge Medical Center260 Long Ridge RoadStamford, CT 06902
- 145 Huguenot St145 Huguenot StreetNew Rochelle, NY 10801
Biography
Pramod K. Mistry, MBBS, PhD, FRCP, FAASLD, cares for adults and children with inherited metabolic liver diseases. He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. In addition to his clinical work, Dr. Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center.
Dr. Mistry, who was born in Kenya and grew up in England, has additional clinical interests in such areas as liver disorders of lipid metabolism (such as Neimann Pick disease, cholesterol ester storage disease), alpha 1 antitrypsin deficiency, porphyrias, and undiagnosed liver diseases in the younger patients. Since 2001, he has played a key role in helping to establish Yale Medicine’s adult and pediatric liver transplant programs.
At Yale School of Medicine, he is a professor of both medicine (digestive diseases) and of pediatrics (gastroenterology), and of cellular and molecular physiology. “My research is focused on the discovery of novel treatments and mechanisms of genetic liver diseases, and developing biomarkers to monitor patients,” he says.
He has published extensively in top-rated journals and led numerous international clinical trials for treatment of rare diseases.
Titles
- Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology)
- Professor of Cellular & Molecular Physiology
- Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center
Education & Training
- MDUniversity of the State of New York, MD Conferral by the Board of Regents (2015)
- MAYale University, Yale Privatim (2007)
- FellowAddenbrooke's Hospital, Cambridge (1994)
- ResidentRoyal Free Hospital, London (1989)
- MBBSRoyal Free Hospital School of Medicine (1983)
- PhDSt. Thomas' Hospital Medical School (1979)
- InternRoyal Free Hospital, London
- FellowRoyal Free Hospital, London
Languages Spoken
- English
- ગુજરાતી (Gujarati)
- हिन्दी (Hindi)
- Kiswahili (Swahili)
Additional Information
Honors & Recognitions
- Fellow: Royal Society of Medicine (2008)
- M.A. (privatim): Yale University (2007)
- National Gaucher Foundation (USA) award for contributions to Gaucher’s disease: (2005)
- Named in Top Doctors of America: (2005)
- Nominated for Bohmfalk Teaching Award in Clinical Science: Yale University School of Medicine (2005)
- Physician of the Year: Genetic Disease Foundation, NY (2000)
- Fellow: Royal College of Physicians (1999)
- Alan Gordon Memorial Award: Gaucher Association, UK (1998)
- Fellow: Foulke's Foundation (1980)
Board Certifications
- AB of Internal Medicine, Internal Medicine (1999, recertified: 2019)
Professional Service
- Yale School of Medicine (2013): Search committee for Chief of Transplantation
- Yale School of Medicine (2013 - Present): Appointments & Promotions Committee, Department of Medicine
- Yale Medical School (2011): Search Committee for Chief of Pediatric Surgery
- Yale School of Medicine (2011): Search Committee for Medical Director of Pediatric Liver Transplant Program
- Yale School of Medicine (2010 - Present): Present Appointment & Promotions Committee (Term) of Yale School of Medicine
- NIH NIDDK (2009): NIH NIDDK special emphasis panel review panel Childhood Liver Disease Research Network
- Yale School of Medicine (2007 - Present): Selection Committee of YSM
- Yale School of Medicine (2007): Search Committee for Chief of Solid Organ Transplantation
- Yale School of Medicine (2006 - 2012): Appointment & Promotions Committee, Department of Pediatrics
- Yale School of Medicine (2006 - Present): Medical School Selection Committee
Publications
- Rabin R, Hirsch Y, Booth K, Hall P, Yachelevich N, Mistry P, Ekstein J, Pappas J. ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal Of Medical Genetics Part A 2024, e63919. PMID: 39473378, DOI: 10.1002/ajmg.a.63919.
- Puthumana J, Lugon N, Xu Y, Deng Y, Mistry P, Parikh C, Consortium T, Angeli P, Belcher J, Gambino C, Salaheldin M, Treepraertsuk S. Systematic Review and Meta-Analysis of Urine Neutrophil Gelatinase–Associated Lipocalin for Acute Kidney Injury in Cirrhosis. Kidney International Reports 2024, 9: 2278-2281. PMID: 39081737, PMCID: PMC11284356, DOI: 10.1016/j.ekir.2024.04.050.
- Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific prevalence of Parkinson’s disease and possible parkinsonian syndrome in Gaucher disease: Real-world evidence from the ICGG Gaucher Registry. Parkinsonism & Related Disorders 2024, 122: 106119. DOI: 10.1016/j.parkreldis.2024.106119.
- Mistry P. Gaucher disease type 3: disease mechanisms and potential therapies. The Biomedical & Life Sciences Collection 2024, 2024: e1005614. DOI: 10.69645/pxam2089.
- Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Oliveira‐dos‐Santos A, Perichon M, Cil S, Kishnani P. Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2024, 99: 1500-1510. PMID: 38686876, DOI: 10.1002/ajh.27347.
- El-Beshlawy A, Tylki-Szymanska A, Belmatoug N, Mistry P. Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3. Future Rare Diseases 2024, 4: frd52. DOI: 10.2217/frd-2023-0015.
- Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific Risk of Parkinson’s Disease and Parkinsonian Syndrome in Patients with Type 1 Gaucher Disease: Real-world Evidence from the International Collaborative Gaucher Group Gaucher Registry (P2-3.001). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000205243.
- Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities. Molecular Genetics And Metabolism 2024, 141: 108025. DOI: 10.1016/j.ymgme.2023.108025.
- Balwani M, Mistry P, di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon M, Alcalay R. Age-specific risk of Parkinson's disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2024, 141: 107767. DOI: 10.1016/j.ymgme.2023.107767.
- Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease. Molecular Genetics And Metabolism 2024, 141: 108027. DOI: 10.1016/j.ymgme.2023.108027.
- Saith A, Kasaiyan M, Ruan J, Basiri M, Mistry P. Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes. Molecular Genetics And Metabolism 2024, 141: 108026. DOI: 10.1016/j.ymgme.2023.108026.
- Nair S, Belinsky G, Mistry P. VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis. Molecular Genetics And Metabolism 2024, 141: 107978. DOI: 10.1016/j.ymgme.2023.107978.
- Mistry P, Garcia-Tsao G. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism. New England Journal Of Medicine 2023, 389: 2010-2013. PMID: 37991861, DOI: 10.1056/nejme2310332.
- Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.
- Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Uslu S, Kishnani P. P1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY. HemaSphere 2023, 7: e2191333. PMCID: PMC10430384, DOI: 10.1097/01.hs9.0000973228.21913.33.
- Mistry P. Gaucher disease type 3: genetics and phenotypes. The Biomedical & Life Sciences Collection 2023, 2023: e1005604. DOI: 10.69645/poro3742.
- El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.
- Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.
- Mistry P, Kishnani P, Balwani M, Charrow J, Hull J, Weinreb N, Cox T. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158. Journal Of Clinical Medicine 2023, 12: 3269. PMID: 37176709, PMCID: PMC10179580, DOI: 10.3390/jcm12093269.
- Nair S, Belinsky G, Ruan J, Basiri M, Klinger K, Mistry P. Single cell resolution of neurodegeneration in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107233. DOI: 10.1016/j.ymgme.2022.107233.
- Mistry P, Bianculli P, Batsu I, Heine W, Oliveira-dos-Santos A, Minini P, Batista J. Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry. Molecular Genetics And Metabolism 2023, 138: 107225. DOI: 10.1016/j.ymgme.2022.107225.
- Basiri M, Ruan J, Nair S, Lau H, Mistry P, Taddei T. The risk of hepatocellular carcinoma is markedly increased in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107022. DOI: 10.1016/j.ymgme.2022.107022.
- Basiri M, Ruan J, Nair S, Guo L, Mistry P. Severe pulmonary arterial hypertension in Gaucher disease type 1. Molecular Genetics And Metabolism 2023, 138: 107021. DOI: 10.1016/j.ymgme.2022.107021.
- Basiri M, Ruan J, Belinsky G, Yang R, Guo L, Klinger K, Mistry P. Osteonecrosis in the era of Gaucher disease therapies. Molecular Genetics And Metabolism 2023, 138: 107020. DOI: 10.1016/j.ymgme.2022.107020.
- King L, Aguiar M, Chiorean A, Dumitriu A, Hull J, Mistry P, Modave F, Montmerle M, Pavlick P, Shah N, Weinreb N, Wilson A. P310: Project Searchlight study methodology: Real-world evaluation and validation of an algorithm to identify persons at risk of Gaucher disease. Genetics In Medicine Open 2023, 1: 100338. DOI: 10.1016/j.gimo.2023.100338.
- Cox T, Charrow J, Lukina E, Mistry P, Foster M, Peterschmitt M. Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics In Medicine 2022, 25: 100329. PMID: 36469032, DOI: 10.1016/j.gim.2022.10.011.
- Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ. Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial. Brain 2022, 146: 461-474. PMID: 36256599, PMCID: PMC9924909, DOI: 10.1093/brain/awac379.
- Mistry P, Kishnani P, Wanner C, Dong D, Bender J, Batista J, Foster J. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet Journal Of Rare Diseases 2022, 17: 362. PMID: 36244992, PMCID: PMC9573793, DOI: 10.1186/s13023-022-02517-0.
- Rosenbloom BE, Cappellini MD, Weinreb NJ, Dragosky M, Revel‐Vilk S, Batista JL, Sekulic D, Mistry PK. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. American Journal Of Hematology 2022, 97: 1337-1347. PMID: 36054609, PMCID: PMC9541044, DOI: 10.1002/ajh.26675.
- Boddupalli CS, Nair S, Belinsky G, Gans J, Teeple E, Nguyen TH, Mehta S, Guo L, Kramer ML, Ruan J, Wang H, Davison M, Kumar D, Vidyadhara D, Zhang B, Klinger K, Mistry PK. Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy. ELife 2022, 11: e79830. PMID: 35972072, PMCID: PMC9381039, DOI: 10.7554/elife.79830.
- Grabowski GA, Mistry PK. Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science. Molecular Genetics And Metabolism 2022, 137: 81-91. PMID: 35933791, DOI: 10.1016/j.ymgme.2022.07.014.
- Adhyaru K, Menezes S, Mistry PK, Nagral A, Mistry P. Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease. Cureus 2022, 14: e23941. PMID: 35535294, PMCID: PMC9079779, DOI: 10.7759/cureus.23941.
- Verma IC, El-Beshlawy A, Tylki-Szymańska A, Martins A, Duan Y, Collin-Histed T, van der Linde MS, Mansour R, Dũng VC, Mistry PK. Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise. Orphanet Journal Of Rare Diseases 2022, 17: 87. PMID: 35369888, PMCID: PMC8977120, DOI: 10.1186/s13023-022-02192-1.
- Pappas J, Rabin R, Mistry P, Hirsch Y, Yachelevich N. eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry. Genetics In Medicine 2022, 24: s127-s128. DOI: 10.1016/j.gim.2022.01.242.
- King L, Aguiar M, Chiorean A, Dumitriu A, Mistry P, Modave F, Montmerle M, Pavlick P, Weinreb N, Wilson A. Project Searchlight Gaucher study design: Real-world evaluation and validation of a rare disease algorithm to identify persons at risk of Gaucher disease using data from electronic health records in the United States. Molecular Genetics And Metabolism 2022, 135: s114. DOI: 10.1016/j.ymgme.2021.11.303.
- Cassiman D, Mistry P, Jones S, Lachmann R, Lukina E, Prada C, Thurberg B, Wasserstein M, Foster M, Patel R, Ribes M, Underhill L, Peterschmitt M. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials. Molecular Genetics And Metabolism 2022, 135: s29. DOI: 10.1016/j.ymgme.2021.11.058.
- Lau H, Mistry P, Wood J, Singamsetty S. A natural history study of Sanfilippo syndrome type D (MPS type IIID). Molecular Genetics And Metabolism 2022, 135: s71. DOI: 10.1016/j.ymgme.2021.11.180.
- Drelichman G, Escobar N, Soberon B, Basack N, Frabasil J, Schenone A, Aguilar G, Larroudé M, Knight J, Zhao D, Ruan J, Mistry PK, Disease A. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. Molecular Genetics And Metabolism Reports 2021, 29: 100820. PMID: 34820281, PMCID: PMC8600149, DOI: 10.1016/j.ymgmr.2021.100820.
- Kleytman N, Ruan J, Ruan A, Zhang B, Murugesan V, Lin H, Guo L, Klinger K, Mistry PK. Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease. Molecular Genetics And Metabolism Reports 2021, 29: 100798. PMID: 34485083, PMCID: PMC8408524, DOI: 10.1016/j.ymgmr.2021.100798.
- Narayanan P, Nair S, Balwani M, Malinis M, Mistry P. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. Molecular Genetics And Metabolism 2021, 135: 115-121. PMID: 34412940, PMCID: PMC8361210, DOI: 10.1016/j.ymgme.2021.08.004.
- Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.
- Mistry PK, Lukina E, Turkia H, Shankar SP, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. American Journal Of Hematology 2021, 96: 1156-1165. PMID: 34161616, PMCID: PMC8457136, DOI: 10.1002/ajh.26276.
- Ryan E, Lopez G, Balwani M, Barbouth D, Burrow T, Ginns E, Goker-Alpan O, Grabowski G, Kartha R, Kishnani P, Lau H, Lee C, Mistry P, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal T, Schiffmann R, Weinreb N, Sidransky E. COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic. Molecular Genetics And Metabolism 2021, 132: s93. PMCID: PMC7849417, DOI: 10.1016/j.ymgme.2020.12.223.
- Rosenbloom B, Cappellini M, Dragosky M, Weinreb N, McClain M, Sekulic D, Mistry P. Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2021, 132: s91-s92. DOI: 10.1016/j.ymgme.2020.12.220.
- Fierro L, Nesheiwat N, Naik H, Mistry P, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2021, 132: s39. PMCID: PMC7849572, DOI: 10.1016/j.ymgme.2020.12.077.
- Schiffmann R, Cox T, Dedieu J, Gaemers S, Hennermann J, Ida H, Mengel E, Mistry P, Musholt P, Sharma J, Zhang B, Peterschmitt J. Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3. Molecular Genetics And Metabolism 2021, 132: s95. DOI: 10.1016/j.ymgme.2020.12.229.
- Mistry P, Thurberg B, Grabowski G. Lysosomal Storage Disorders in Children. 2021, 570-592. DOI: 10.1017/9781108918978.032.
- Weinreb NJ, Camelo JS, Charrow J, McClain MR, Mistry P, Belmatoug N, investigators F. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Molecular Genetics And Metabolism 2021, 132: 100-111. PMID: 33485799, DOI: 10.1016/j.ymgme.2020.12.295.
- Grabowski GA, Antommaria AHM, Kolodny EH, Mistry PK. Gaucher disease: Basic and translational science needs for more complete therapy and management. Molecular Genetics And Metabolism 2020, 132: 59-75. PMID: 33419694, PMCID: PMC8809485, DOI: 10.1016/j.ymgme.2020.12.291.
- Fierro L, Nesheiwat N, Naik H, Narayanan P, Mistry PK, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2020, 132: 44-48. PMID: 33353808, PMCID: PMC7834197, DOI: 10.1016/j.ymgme.2020.12.288.
- El-Beshlawy A, Eid K, AbdelSalam A, Mohamed F, Selim Y, Gebril N, Fateen E, Mistry P. Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades. Blood 2020, 136: 21-22. DOI: 10.1182/blood-2020-141776.
- Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Molecular Genetics And Metabolism 2020, 131: 116-123. PMID: 32616389, DOI: 10.1016/j.ymgme.2020.06.008.
- Mistry PK, Balwani M, Charrow J, Kishnani P, Niederau C, Underhill LH, McClain MR. Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2020, 95: 1038-1046. PMID: 32438452, PMCID: PMC7497238, DOI: 10.1002/ajh.25875.
- Narayanan P, Mistry PK. Update on Alpha‐1 Antitrypsin Deficiency in Liver Disease. Clinical Liver Disease 2020, 15: 228-235. PMID: 32617155, PMCID: PMC7326637, DOI: 10.1002/cld.896.
- Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular Genetics And Metabolism 2020, 130: 164-169. PMID: 32471800, PMCID: PMC7211677, DOI: 10.1016/j.ymgme.2020.05.002.
- Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson‐Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 2020, 71: 1879-1882. PMID: 31863603, PMCID: PMC8577800, DOI: 10.1002/hep.31087.
- Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.
- Mistry P, Lukina E, Turkia H, Shankar S, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster M, Gaemers S, Peterschmitt M. Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial. Molecular Genetics And Metabolism 2020, 129: s110-s111. DOI: 10.1016/j.ymgme.2019.11.284.
- Eid K, McClain M, Mengel E, Mistry P, Baris-Feldman H. Delineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality. Molecular Genetics And Metabolism 2020, 129: s52-s53. DOI: 10.1016/j.ymgme.2019.11.117.
- Schiffmann R, Cox T, Ida H, Mengel E, Mistry P, Crawford N, Gaemers S, Ji A, Peterschmitt M, Sharma J, Zhang Q, Fischer T. Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3. Molecular Genetics And Metabolism 2020, 129: s144-s145. DOI: 10.1016/j.ymgme.2019.11.382.
- Boddupalli V, Nair S, Belinsky G, Mehta S, Mistry P. Delineating the role of myeloid cells and brain microglia in Gaucher disease. Molecular Genetics And Metabolism 2020, 129: s31. DOI: 10.1016/j.ymgme.2019.11.054.
- Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarere J, Berger MG. Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 2020, 106: 437-445. PMID: 32001533, PMCID: PMC7849573, DOI: 10.3324/haematol.2019.236083.
- Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2020, 2115-2120. DOI: 10.1093/med/9780198746690.003.0234.
- Drelichman G, Castañeda‐Hernández G, Ar M, Dragosky M, Garcia R, Lee H, Moiseev S, Naderi M, Rosenbaum H, Žnidar I, Zuluaga AF, Freisens S, Mistry PK. The road to biosimilars in rare diseases ‐ ongoing lessons from Gaucher disease. American Journal Of Hematology 2019, 95: 233-237. PMID: 31816110, PMCID: PMC7027782, DOI: 10.1002/ajh.25701.
- Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.
- Weinreb N, Cox T, Mistry P, Charrow J, Lukina E, Foster M, Peterschmitt M. Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials. Blood 2019, 134: 4859. DOI: 10.1182/blood-2019-127337.
- Olave MC, Gurung A, Mistry PK, Kakar S, Yeh M, Xu M, Wu TT, Torbenson M, Jain D. Etiology of cirrhosis in the young. Human Pathology 2019, 96: 96-103. PMID: 31698008, DOI: 10.1016/j.humpath.2019.09.015.
- Hakim A, Mistry PK, Vilarinho S. Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”. Journal Of Hepatology 2019, 71: 850-851. PMID: 31378425, DOI: 10.1016/j.jhep.2019.07.005.
- Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. Molecular Genetics And Metabolism 2019, 128: 62-67. PMID: 31358474, PMCID: PMC6864269, DOI: 10.1016/j.ymgme.2019.07.014.
- Goobie GC, Sirrs SM, Yee J, English JC, Bergeron C, Nador R, Swiston JR, Mistry PK, Paquin W, Levy RD. Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. Respiratory Medicine Case Reports 2019, 28: 100893. PMID: 31334026, PMCID: PMC6624456, DOI: 10.1016/j.rmcr.2019.100893.
- Beshlawy AE, Murugesan V, Mistry PK, Eid K. Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy. Molecular Genetics And Metabolism Reports 2019, 20: 100490. PMID: 31309038, PMCID: PMC6606832, DOI: 10.1016/j.ymgmr.2019.100490.
- Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.
- Goobie G, Sirrs S, Yee J, English J, Bergeron C, Nador R, Swiston J, Mistry P, Paquin W, Levy R. Lung Transplantation in a Patient with Gaucher Disease Type 1: A Case Report and Review of the Literature. 2019, a6253-a6253. DOI: 10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6253.
- Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.
- Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Molecules And Diseases 2019, 77: 101-102. PMID: 31029022, DOI: 10.1016/j.bcmd.2019.04.003.
- Mistry P, Balwani M, Charrow J, Kishnani P, Niederau C, McClain M. Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry. Molecular Genetics And Metabolism 2019, 126: s100-s101. DOI: 10.1016/j.ymgme.2018.12.252.
- Cox T, Charrow J, Lukina E, Mistry P, Marinakis T, Foster M, Gaemers S, Peterschmitt M. Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment. Molecular Genetics And Metabolism 2019, 126: s43. DOI: 10.1016/j.ymgme.2018.12.091.
- Mistry P, Charrow J, Cox T, Lukina E, Marinakis T, Foster M, Gaemers S, Peterschmitt J. Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials. Blood 2018, 132: 2396. DOI: 10.1182/blood-2018-99-117289.
- Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Molecular Genetics And Metabolism 2018, 126: 98-105. PMID: 30514648, PMCID: PMC7249497, DOI: 10.1016/j.ymgme.2018.11.014.
- Medenica S, Vujosevic S, Vujicic V, Dapcevic M, Bakic N, Ruby Y, Liu J, Mistry P. First report of Gaucher disease in Montenegro: Genotype/phenotype correlations. Endocrine Abstracts 2018 DOI: 10.1530/endoabs.56.p282.
- Nair S, Sng J, Boddupalli CS, Seckinger A, Chesi M, Fulciniti M, Zhang L, Rauniyar N, Lopez M, Neparidze N, Parker T, Munshi NC, Sexton R, Barlogie B, Orlowski R, Bergsagel L, Hose D, Flavell RA, Mistry PK, Meffre E, Dhodapkar MV. Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight 2018, 3: e98259. PMID: 29669929, PMCID: PMC5931125, DOI: 10.1172/jci.insight.98259.
- Weinreb NJ, Mistry PK, Rosenbloom BE, Dhodapkar MV. MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association. Blood 2018, 131: 2500-2501. PMID: 29650800, PMCID: PMC5981170, DOI: 10.1182/blood-2018-02-834689.
- Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Molecules And Diseases 2018, 71: 71-74. PMID: 29680197, DOI: 10.1016/j.bcmd.2018.04.001.
- Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.
- Puri R, Kapoor S, Kishnani P, Dalal A, Gupta N, Muranjan M, Phadke S, Sachdeva A, Verma I, Mistry P, Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics 2018, 55: 143-153. PMID: 29503270, DOI: 10.1007/s13312-018-1249-9.
- Cox TM, Mistry PK. Therapeutic position of eliglustat. Blood Cells Molecules And Diseases 2017, 69: 117-118. PMID: 29187290, DOI: 10.1016/j.bcmd.2017.11.001.
- Mistry PK, Lukina E, Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American Journal Of Hematology 2017, 92: 1170-1176. PMID: 28762527, PMCID: PMC5656936, DOI: 10.1002/ajh.24877.
- Taguchi YV, Liu J, Ruan J, Pacheco J, Zhang X, Abbasi J, Keutzer J, Mistry PK, Chandra SS. Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease. Journal Of Neuroscience 2017, 37: 9617-9631. PMID: 28847804, PMCID: PMC5628407, DOI: 10.1523/jneurosci.1525-17.2017.
- Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. American Journal Of Hematology 2017, 92: 929-939. PMID: 28569047, PMCID: PMC5600096, DOI: 10.1002/ajh.24801.
- Raskovalova T, Deegan PB, Yang R, Pavlova E, Stirnemann J, Labarère J, Zimran A, Mistry PK, Berger M. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Systematic Reviews 2017, 6: 87. PMID: 28427477, PMCID: PMC5397740, DOI: 10.1186/s13643-017-0483-x.
- McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics In Medicine 2017, 19: 967-974. PMID: 28406489, PMCID: PMC5589980, DOI: 10.1038/gim.2017.7.
- Nair S, Sng J, Zhang L, Branagan A, Liu J, Boddupalli C, Meffre E, Mistry P, Dhodapkar M. Association of lysolipids with Gaucher disease - associated and sporadic gammopathies. Molecular Genetics And Metabolism 2017, 120: s100. DOI: 10.1016/j.ymgme.2016.11.251.
- Weinreb N, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, Kaplan P, Khan A, Kishnani P, Kolodny E, Rosenbloom B, Scott C, Mistry P. Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2017, 120: s139. DOI: 10.1016/j.ymgme.2016.11.368.
- Mistry P, Lukina E, Turkia H, Shankar S, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Wu Y, Gaemers S, Peterschmitt M. Long-term results of ENGAGE: a phase 3, randomized, double‑blind, placebo-controlled, multi‑center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease. Molecular Genetics And Metabolism 2017, 120: s97-s98. DOI: 10.1016/j.ymgme.2016.11.243.
- Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Mengel E, Mistry P, Schuchman E, McGovern M. Consensus recommendation on a diagnostic guideline for acid sphingomyelinase deficiency. Molecular Genetics And Metabolism 2017, 120: s138. DOI: 10.1016/j.ymgme.2016.11.366.
- Taguchi Y, Liu J, Ruan J, Pacheco J, Zhang X, Abbasi J, Keutzer J, Mistry P, Chandra S. Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease. Molecular Genetics And Metabolism 2017, 120: s129. DOI: 10.1016/j.ymgme.2016.11.338.
- Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Blood Cells Molecules And Diseases 2016, 68: 47-53. PMID: 28003098, PMCID: PMC5468511, DOI: 10.1016/j.bcmd.2016.12.002.
- El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2016, 120: 47-56. PMID: 28040394, DOI: 10.1016/j.ymgme.2016.12.001.
- Mistry P, Weinreb N, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, Kaplan P, Khan A, Kishnani P, Kolodny E, Rosenbloom B, Scott C. Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry. Blood 2016, 128: 4877. DOI: 10.1182/blood.v128.22.4877.4877.
- Sack J, Peaper DR, Mistry P, Malinis M. Clinical implications of Paracoccus yeeii bacteremia in a patient with decompensated cirrhosis. IDCases 2016, 7: 9-10. PMID: 27920982, PMCID: PMC5133649, DOI: 10.1016/j.idcr.2016.11.008.
- Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Molecular Genetics And Metabolism 2016, 120: 8-21. PMID: 27916601, PMCID: PMC5425955, DOI: 10.1016/j.ymgme.2016.11.006.
- Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Molecular Genetics And Metabolism 2016, 120: 1-7. PMID: 27866832, DOI: 10.1016/j.ymgme.2016.10.010.
- Murugesan V, Chuang W, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. American Journal Of Hematology 2016, 91: 1082-1089. PMID: 27441734, PMCID: PMC5234703, DOI: 10.1002/ajh.24491.
- Cohen IJ, Baris H, Mistry PK, Sands MS. Overcoming the Next Barriers to Successful Therapy. Pediatric Endocrinology Reviews : PER 2016, 13 Suppl 1: 629. PMID: 27491209.
- Murugesan V, Lischuk A, Haims A, Lackman R, Brooks JS, Mankin H, Mistry PK. Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population. American Journal Of Hematology 2016, 91: 736-741. PMID: 27102845, DOI: 10.1002/ajh.24398.
- Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. JIMD Reports 2016, 31: 15-27. PMID: 27008195, PMCID: PMC5388645, DOI: 10.1007/8904_2016_548.
- Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurology Genetics 2016, 2: &na;. PMID: 27123476, PMCID: PMC4830189, DOI: 10.1212/nxg.0000000000000057.
- Nair S, Branagan AR, Liu J, Boddupalli CS, Mistry PK, Dhodapkar MV. Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. New England Journal Of Medicine 2016, 374: 555-561. PMID: 26863356, PMCID: PMC4804194, DOI: 10.1056/nejmoa1508808.
- Weinreb N, Cox T, Lukina E, Mistry P, Angell J, Gaemers S, Peterschmitt M. Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials. Blood 2015, 126: 884. DOI: 10.1182/blood.v126.23.884.884.
- Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. The Role of ARF6 in Biliary Atresia. PLOS ONE 2015, 10: e0138381. PMID: 26379158, PMCID: PMC4574480, DOI: 10.1371/journal.pone.0138381.
- Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Molecular Genetics And Metabolism 2015, 117: 95-103. PMID: 26387627, DOI: 10.1016/j.ymgme.2015.09.002.
- Mistry PK, Belmatoug N, vom Dahl S, Giugliani R. Understanding the natural history of Gaucher disease. American Journal Of Hematology 2015, 90: s6-s11. PMID: 26096746, DOI: 10.1002/ajh.24055.
- Gurung A, Mistry P, Kakar S, Yeh M, Wu T, Torbenson M, Jain D. 806 Etiology of Cirrhosis in the Young. Gastroenterology 2015, 148: s-997. DOI: 10.1016/s0016-5085(15)33406-5.
- Do A, Lim J, Liapakis A, Babas G, Caldwell C, Fortune B, Emre S, Kulkarni S, Lempit S, Mistry P, Mulligan D, Rodriguez-Davalos M, Schilsky M, Tichy E, Yoo P, Jakab S. Tu1044 Sofosbuvir-Based Interferon-Free Regimens for Hepatitis C Infection in Patients With Compensated and Decompensated Cirrhosis: Interim Analysis of a Prospective Observational Cohort. Gastroenterology 2015, 148: s-1094-s-1095. DOI: 10.1016/s0016-5085(15)33733-1.
- Mistry PK, Lukina E, Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial. JAMA 2015, 313: 695-706. PMID: 25688781, PMCID: PMC4962880, DOI: 10.1001/jama.2015.459.
- Kim J, Cintron D, Groden C, Wiggs E, Davis J, Mistry P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E, Lopez G. Gaucher disease and Parkinsonism: Clinical course and prognosis. Molecular Genetics And Metabolism 2015, 114: s62. DOI: 10.1016/j.ymgme.2014.12.130.
- Mistry P, Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Ortega A, Shankar S, Solano M, Ross L, Angell J, Peterschmitt M. ENGAGE — A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: Results after 18months. Molecular Genetics And Metabolism 2015, 114: s81-s82. DOI: 10.1016/j.ymgme.2014.12.179.
- Nair S, Boddupalli CS, Verma R, Liu J, Yang R, Pastores GM, Mistry PK, Dhodapkar MV. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood 2014, 125: 1256-1271. PMID: 25499455, PMCID: PMC4335081, DOI: 10.1182/blood-2014-09-600270.
- Nair S, Boddupalli C, Verma R, Liu J, Ruhua Y, Pastores G, Mistry P, Dhodapkar M. Type II NKT-TFH Cells Against Gaucher Lipids Regulate B Cell Immunity and Inflammation. Blood 2014, 124: 755. DOI: 10.1182/blood.v124.21.755.755.
- Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ortega A, Shankar S, Solano M, Ross L, Angell J, Peterschmitt J. Engage - a Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Eliglustat in Adults with Gaucher Disease Type 1: Results after 18 Months. Blood 2014, 124: 2732. DOI: 10.1182/blood.v124.21.2732.2732.
- Cohen IJ, Baris HN, Mistry PK, Sands MS. Treatment for Lsds: real options for several diseases. Forward. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 71. PMID: 25345087.
- Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 72-81. PMID: 25345088, PMCID: PMC4520262.
- Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
- Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 4934-4939. PMID: 24639522, PMCID: PMC3977292, DOI: 10.1073/pnas.1400768111.
- Barranger JA, Brady RO, Grabowski GA, Mankin H, Mistry PK, Weinreb NJ. Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014. American Journal Of Hematology 2014, 89: 457-458. PMID: 24488939, DOI: 10.1002/ajh.23687.
- Shankar S, Lukina E, Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ross L, Marulkar S, Peterschmitt M. Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results. Blood 2013, 122: 2275. DOI: 10.1182/blood.v122.21.2275.2275.
- Cohen IJ, Baris H, Mistry PK. Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword. Pediatric Endocrinology Reviews : PER 2013, 11 Suppl 1: 58. PMID: 24380122.
- Cheng SX, Bai HX, Gonzalez‐Peralta R, Mistry PK, Gorelick FS. Calcium Ameliorates Diarrhea in Immunocompromised Children. Journal Of Pediatric Gastroenterology And Nutrition 2013, 56: 641-644. PMID: 23343935, PMCID: PMC4448079, DOI: 10.1097/mpg.0b013e3182868946.
- Mistry P, Lukina E, Dridi M, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Peterschmitt M. A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9months of treatment. Molecular Genetics And Metabolism 2013, 108: s66-s67. DOI: 10.1016/j.ymgme.2012.11.171.
- Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. American Journal Of Human Genetics 2013, 92: 245-251. PMID: 23332917, PMCID: PMC3567281, DOI: 10.1016/j.ajhg.2012.12.012.
- Mistry PK. Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy. Hepatology 2013, 57: 2100-2102. PMID: 23080135, DOI: 10.1002/hep.26106.
- Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Reviews™ In Oncogenesis 2013, 18: 235-246. PMID: 23510066, PMCID: PMC4437216, DOI: 10.1615/critrevoncog.2013006145.
- Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.
- Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK. Gaucher disease gene GBA functions in immune regulation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 10018-10023. PMID: 22665763, PMCID: PMC3382552, DOI: 10.1073/pnas.1200941109.
- Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clinical Advances In Hematology And Oncology 2012, 10: 1-16. PMID: 22895100.
- Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical And Biophysical Research Communications 2012, 422: 573-577. PMID: 22588172, PMCID: PMC3377787, DOI: 10.1016/j.bbrc.2012.05.027.
- H. M, Bai HX, Park AJ, Latif SU, Mistry PK, Pashankar D, Northrup VS, Bhandari V, Husain SZ. Risk Factors Associated With Biliary Pancreatitis in Children. Journal Of Pediatric Gastroenterology And Nutrition 2012, 54: 651-656. PMID: 22002481, PMCID: PMC3626418, DOI: 10.1097/mpg.0b013e31823a897d.
- Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.
- Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American Journal Of Hematology 2012, 87: 377-383. PMID: 22388998, PMCID: PMC3684025, DOI: 10.1002/ajh.23118.
- Khan A, Hangartner T, Weinreb N, Taylor J, Mistry P. Risk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry. Molecular Genetics And Metabolism 2012, 105: s39-s40. DOI: 10.1016/j.ymgme.2011.11.091.
- Mistry P, Kolodny E, Tylki-Szymanska A, Belmatoug N, Cabello J, Vellodi A, Cole J, Grabowski G. Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry. Molecular Genetics And Metabolism 2012, 105: s46-s47. DOI: 10.1016/j.ymgme.2011.11.115.
- Pastores G, Rosenbloom B, Weinreb N, Goker-Alpan O, Mardach R, Lipson M, Ibrahim J, Cohn G, Zahrieh D, Mistry P. Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058. Blood 2011, 118: 1101. DOI: 10.1182/blood.v118.21.1101.1101.
- Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, Puri RD, Gupta N, Kishnani PS, Mistry PK. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatrics 2011, 48: 779. PMID: 22080680, DOI: 10.1007/s13312-011-0128-4.
- Bisariya V, Mistry P, Liu J, Chaudhari M, Gupta N, Kabra M. The mutation spectrum in Indian patients with Gaucher disease. Genome Biology 2011, 12: p26. DOI: 10.1186/1465-6906-12-s1-p26.
- Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.
- Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011, 118: e118-e127. PMID: 21868580, PMCID: PMC3685900, DOI: 10.1182/blood-2011-05-352971.
- Mistry P, Jain D. Haematological Disorders of the Liver. 2011, 48-69. DOI: 10.1002/9781444341294.ch4.
- Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.
- Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. Journal Of Inherited Metabolic Disease 2011, 34: 429-437. PMID: 21290183, PMCID: PMC3186206, DOI: 10.1007/s10545-010-9271-7.
- Lo S, Liu J, Pastores G, Knowles J, Boxer M, Korson M, Alec K, Mistry P. Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes. Molecular Genetics And Metabolism 2011, 102: s25-s26. DOI: 10.1016/j.ymgme.2010.11.086.
- Mistry P, Liu J, Blair H, Keutzer J, Zhang K, Sun L, Zaidi M. GBA1 deficient mice recapitulates Gaucher disease displaying system-wide cellular and molecular dysregulation beyond the macrophage. Molecular Genetics And Metabolism 2011, 102: s30. DOI: 10.1016/j.ymgme.2010.11.101.
- Bisariya V, Mistry P, Liu J, Chaudhari M, Gupta N, Kabra M. The mutation spectrum in Indian patients with Gaucher disease. Genome Biology 2011, 12: p26. PMCID: PMC3439070, DOI: 10.1186/gb-2011-12-s1-p26.
- Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Molecules And Diseases 2010, 46: 66-72. PMID: 21112800, PMCID: PMC3019260, DOI: 10.1016/j.bcmd.2010.10.011.
- Mistry PK, Cappellini MD, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G. A reappraisal of Gaucher disease—diagnosis and disease management algorithms. American Journal Of Hematology 2010, 86: 110-115. PMID: 21080341, PMCID: PMC3058841, DOI: 10.1002/ajh.21888.
- Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 19473-19478. PMID: 20962279, PMCID: PMC2984187, DOI: 10.1073/pnas.1003308107.
- Lo SM, McNamara J, Seashore MR, Mistry PK. Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 429-433. PMID: 20882348, PMCID: PMC3053412, DOI: 10.1007/s10545-010-9214-3.
- Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.
- Ayto RM, Hughes DA, Jeevaratnam P, Rolles K, Burroughs AK, Mistry PK, Mehta AB, Pastores GM. Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease. American Journal Of Transplantation 2010, 10: 1934-1939. PMID: 20659098, DOI: 10.1111/j.1600-6143.2010.03168.x.
- Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.
- Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Current Opinion In Organ Transplantation 2010, 15: 269-276. PMID: 20489626, DOI: 10.1097/mot.0b013e3283399dbd.
- Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2010, 1688-1693. DOI: 10.1093/med/9780199204854.003.120702.
- Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype. American Journal Of Hematology 2010, 85: 340-345. PMID: 20425796, PMCID: PMC2875938, DOI: 10.1002/ajh.21684.
- Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 291-300. PMID: 20354791, PMCID: PMC3008397, DOI: 10.1007/s10545-010-9070-1.
- Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson's disease in type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 167-173. PMID: 20177787, PMCID: PMC2887303, DOI: 10.1007/s10545-010-9055-0.
- Stein P, Mistry P. 130. The significance of focal splenic lesions (FSL) in Gaucher disease (GD1). Molecular Genetics And Metabolism 2010, 99: s35. DOI: 10.1016/j.ymgme.2009.10.147.
- Lo S, Stein P, Yang R, Mistry P. 83. Occurrence of multiple cancers in type 1 Gaucher disease (GD1). Molecular Genetics And Metabolism 2010, 99: s25. DOI: 10.1016/j.ymgme.2009.10.100.
- Hůlková H, Poupětová H, Harzer K, Mistry P, Aerts JM, Elleder M. Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries. Journal Of Inherited Metabolic Disease 2010, 33: 69-78. PMID: 20049530, PMCID: PMC2828558, DOI: 10.1007/s10545-009-9018-5.
- Mistry P, Deegan P, Vellodi A, Cole J, Yeh M, Weinreb N. Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease. Blood 2009, 114: 1353. DOI: 10.1182/blood.v114.22.1353.1353.
- Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. British Journal Of Haematology 2009, 147: 561-570. PMID: 19732054, PMCID: PMC2774157, DOI: 10.1111/j.1365-2141.2009.07872.x.
- Shah AU, Sarwar A, Orabi AI, Gautam S, Grant WM, Park AJ, Shah AU, Liu J, Mistry PK, Jain D, Husain SZ. Protease activation during in vivo pancreatitis is dependent on calcineurin activation. AJP Gastrointestinal And Liver Physiology 2009, 297: g967-g973. PMID: 20501444, PMCID: PMC2777459, DOI: 10.1152/ajpgi.00181.2009.
- Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: Resetting the clinical and scientific agenda. American Journal Of Hematology 2009, 84: 205-207. PMID: 19296473, PMCID: PMC2999876, DOI: 10.1002/ajh.21384.
- Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.
- Weinreb N, Deegan P, Vellodi A, Cole J, Yeh M, Mistry P. 149. Avascular Necrosis in type I Gaucher disease: Analysis of risk factors. Molecular Genetics And Metabolism 2009, 96: s45. DOI: 10.1016/j.ymgme.2008.11.150.
- Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genetics In Medicine 2009, 11: 92-100. PMID: 19265748, PMCID: PMC3793250, DOI: 10.1097/gim.0b013e31818e2c19.
- Mistry P. Hematologic algorithms in Gaucher disease: Outcomes from an International Meeting. Clinical Therapeutics 2009, 31: s173-s174. DOI: 10.1016/s0149-2918(09)00421-4.
- Schilsky M, Mistry P. Chapter 42 Wilson Disease and the Kidney. 2009, 709-713. DOI: 10.1016/b978-0-12-449851-8.00042-5.
- vom Dahl S, Mistry P, Schuetz S, Poll L. Preventing the irreversible: Time to avascular necrosis, treatment intervention, and bone management guidelines in Gaucher disease. Clinical Therapeutics 2009, 31: s186-s187. DOI: 10.1016/s0149-2918(09)80016-7.
- Mistry P, Cappellini M, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman N, Massenkeil G. Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists. Blood 2008, 112: 4648. DOI: 10.1182/blood.v112.11.4648.4648.
- Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S. Life expectancy in Gaucher disease type 1. American Journal Of Hematology 2008, 83: 896-900. PMID: 18980271, PMCID: PMC3743399, DOI: 10.1002/ajh.21305.
- DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease. American Journal Of Roentgenology 2008, 191: 115-23. PMID: 18562733, PMCID: PMC3731993, DOI: 10.2214/ajr.07.3550.
- Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki‐Szymanska A, Yee J, Weinreb N. Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal Of Inherited Metabolic Disease 2008, 31: 319-336. PMID: 18509745, DOI: 10.1007/s10545-008-0779-z.
- Taddei T, Mistry P, Schilsky ML. Inherited metabolic disease of the liver. Current Opinion In Gastroenterology 2008, 24: 278-286. PMID: 18408455, DOI: 10.1097/mog.0b013e3282fcbc0f.
- Gathungu GN, Pashankar DS, Sarita-Reyes CD, Zambrano E, Reyes-Mugica M, Brueckner M, Mistry PK, Husain SZ. Microvillus Inclusion Disease Associated With Coarctation of the Aorta and Bicuspid Aortic Valve. Journal Of Clinical Gastroenterology 2008, 42: 400-403. PMID: 18277898, DOI: 10.1097/01.mcg.0000225632.07039.b6.
- Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A. Prevalence of Type 1 Gaucher Disease in the United States. JAMA Internal Medicine 2008, 168: 326-327. PMID: 18268176, DOI: 10.1001/archinternmed.2007.128.
- Grabowski G, Kacena K, Hollak C, Zhang L, Yee J, Mistry P, Zimran A, Charrow J, vom Dahl S. 36. Dose–response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type I. Molecular Genetics And Metabolism 2008, 93: 23. DOI: 10.1016/j.ymgme.2007.10.048.
- Carmack S, Taddei T, Robert ME, Mistry P, Jain D. Increased T-Cell Sinusoidal Lymphocytosis in Liver Biopsies in Patients With Chronic Hepatitis C and Mixed Cryoglobulinemia. The American Journal Of Gastroenterology 2007, 103: ajg200850138. PMID: 17970837, DOI: 10.1111/j.1572-0241.2007.01603.x.
- Mistry P, Germain D. Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease. La Revue De Médecine Interne 2007, 28: 171-175. PMID: 18228683, DOI: 10.1016/s0248-8663(07)78876-8.
- Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention. American Journal Of Hematology 2007, 82: 697-701. PMID: 17492645, DOI: 10.1002/ajh.20908.
- Mistry P. Comprehensive Disease Management Model in Heterogeneous Progressive Disease, Exemplified by Gaucher Disease. Clinical Therapeutics 2007, 29: s79-s80. DOI: 10.1016/s0149-2918(07)80456-5.
- Mistry P, Sadan S, Yang R, Yee J, Yang M. Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. Blood 2006, 108: 3308. DOI: 10.1182/blood.v108.11.3308.3308.
- Mistry P, El-Beshlawy A, Raghab L, El-Motelab L, Azim K, Samir M, Fatin E, Yang R, Yang M. CHARACTERIZATION OF A LARGE COHORT OF EGYPTIAN CHILDREN WITH GAUCHER DISEASE. Journal Of Pediatric Gastroenterology And Nutrition 2006, 43: e15-e16. DOI: 10.1097/00005176-200610000-00034.
- Mistry P, El‐Beshlawy A, Raghab L, El‐Motelab L, Azim K, Samir M, Fatin E, Yang R, Yang M. CHARACTERIZATION OF A LARGE COHORT OF EGYPTIAN CHILDREN WITH GAUCHER DISEASE. Journal Of Pediatric Gastroenterology And Nutrition 2006, 43: e15-e16. DOI: 10.1002/j.1536-4801.2006.tb13749.x.
- Germain D, Mistry P. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s7-s10. DOI: 10.1016/s0248-8663(06)80003-2.
- Mistry P, Germain D. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s34-s38. DOI: 10.1016/s0248-8663(06)80010-x.
- Mistry P, Germain DP. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s3-s6. PMID: 16644399, DOI: 10.1016/s0248-8663(06)80002-0.
- Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.
- El‐Beshlawy A, Ragab L, Youssry I, Yakout K, El‐Kiki H, Eid K, Mansour IM, El‐Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal Of Inherited Metabolic Disease 2006, 29: 92-98. PMID: 16601874, DOI: 10.1007/s10545-006-0121-6.
- Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American Journal Of Hematology 2005, 80: 223-229. PMID: 16247743, DOI: 10.1002/ajh.20504.
- Xu R, Mistry P, Mckenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel M. Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature. Seminars In Liver Disease 2005, 25: 226-229. PMID: 15918150, DOI: 10.1055/s-2005-871201.
- Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics In Medicine 2005, 7: 105-110. PMID: 15714077, DOI: 10.1097/01.gim.0000153660.88672.3c.
- Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Therapeutic goals in the treatment of Gaucher disease. Seminars In Hematology 2004, 41: 4-14. PMID: 15468045, DOI: 10.1053/j.seminhematol.2004.07.009.
- Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A. Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients. Seminars In Hematology 2004, 41: 15-22. PMID: 15468046, DOI: 10.1053/j.seminhematol.2004.07.010.
- Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. The Journal Of Pediatrics 2004, 144: 112-120. PMID: 14722528, DOI: 10.1016/j.jpeds.2003.10.067.
- Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics And Metabolism 2002, 77: 91-98. PMID: 12359135, DOI: 10.1016/s1096-7192(02)00122-1.
- Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.
- Sirrs S, Irving J, McCauley G, Gin K, Munt B, Pastores G, Mistry P. Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease. Journal Of Inherited Metabolic Disease 2002, 25: 131-132. PMID: 12118528, DOI: 10.1023/a:1015680827730.
- Nagral A, Quaglia A, Sabin CA, Dhillon AP, Bearcroft CP, Millar A, Davies SE, Mistry PK, Davidson BR, Rolles K, Burroughs AK. Blood and graft eosinophils in acute cellular rejection of liver allografts. Transplantation Proceedings 2001, 33: 2588-2593. PMID: 11406255, DOI: 10.1016/s0041-1345(01)02105-4.
- Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.
- Butler P, McIntyre N, Mistry P. Molecular Diagnosis of Wilson Disease. Molecular Genetics And Metabolism 2001, 72: 223-230. PMID: 11243728, DOI: 10.1006/mgme.2000.3143.
- The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher DiseaseCharrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. JAMA Internal Medicine 2000, 160: 2835-2843. PMID: 11025794, DOI: 10.1001/archinte.160.18.2835.
- Gu M, Cooper J, Butler P, Walker A, Mistry P, Dooley J, Schapira A. Oxidative-phosphorylation defects in liver of patients with Wilson's disease. The Lancet 2000, 356: 469-474. PMID: 10981891, DOI: 10.1016/s0140-6736(00)02556-3.
- Mistry P. Treatment of Gaucher's disease with OGT 918. The Lancet 2000, 356: 676. PMID: 10968454, DOI: 10.1016/s0140-6736(00)02618-0.
- Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. American Journal Of Human Genetics 2000, 66: 1821-32. PMID: 10777718, PMCID: PMC1378046, DOI: 10.1086/302946.
- Schilsky M, Mistry P. Inherited metabolic disease. Current Opinion In Gastroenterology 2000, 16: 219-230. PMID: 17023879, DOI: 10.1097/00001574-200005000-00004.
- Scott C, Pastores G, Andersson H, Charrow J, Kaplan P, Kolodny E, Mistry P, Rosenbloom B, Wappner R, Weinreb N. The clinical expression of Gaucher disease correlates with genotype: Data from 570 patients. Genetics In Medicine 2000, 2: 65-65. DOI: 10.1097/00125817-200001000-00059.
- Scott C, Pastores G, Andersson H, Charrow J, Kaplan P, Kolodny E, Mistry P, Rosenbloom B, Wappner R, Weinreb N. The clinical expression of Gaucher disease correlates with genotype. Genetics In Medicine 2000, 2: 65. DOI: 10.1097/00125817-200001000-00058.
- Papatheodoridis G, O'Beirne J, Mistry P, Davidson B, Rolles K, Burroughs A. MYCOPHENOLATE MOFETIL MONOTHERAPY IN STABLE LIVER TRANSPLANT PATIENTS WITH CYCLOSPORINE-INDUCED RENAL IMPAIRMENT. Transplantation 1999, 68: 155-157. PMID: 10428285, DOI: 10.1097/00007890-199907150-00029.
- Diaz G, Gelb B, Risch N, Nygaard T, Maire I, Poenaru L, Caillaud C, Sa Miranda C, Amaral O, Mistry P, Desnick R. Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation. Pediatric Research 1999, 45: 137-137. DOI: 10.1203/00006450-199904020-00814.
- Nitu IC, Lee CA, Dhillon AP, Mistry PK. Management of liver failure in a haemophilic patient co‐infected with human immunodeficiency and hepatitis C viruses. International Journal Of Laboratory Hematology 1999, 21: 139-142. PMID: 10342075, DOI: 10.1046/j.1365-2257.1999.00198.x.
- Mistry PK. Gaucher's disease: a model for modern management of a genetic disease. Journal Of Hepatology 1999, 30 Suppl 1: 1-5. PMID: 10370894.
- Papatheodoridis GV, Hamilton M, Mistry PK, Davidson B, Rolles K, Burroughs AK. Ulcerative colitis has an aggressive course after orthotopic liver transplantation for primary sclerosing cholangitis. Gut 1998, 43: 639. PMID: 9824344, PMCID: PMC1727300, DOI: 10.1136/gut.43.5.639.
- van 't Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV. Combined liver-kidney transplantation in methylmalonic acidemia. The Journal Of Pediatrics 1998, 132: 1043-1044. PMID: 9627602, DOI: 10.1016/s0022-3476(98)70407-x.
- Gordon FH, Mistry PK, Sabin CA, Lee CA. Outcome of orthotopic liver transplantation in patients with haemophilia. Gut 1998, 42: 744. PMID: 9659174, PMCID: PMC1727096, DOI: 10.1136/gut.42.5.744.
- Mistry P, Abrahamov A. 12 A practical approach to diagnosis and management of Gaucher's disease. Best Practice & Research Clinical Haematology 1997, 10: 817-838. PMID: 9497866, DOI: 10.1016/s0950-3536(97)80042-x.
- Mistry P, Wraight E, Cox T. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. The Lancet 1996, 348: 1555-1559. PMID: 8950883, DOI: 10.1016/s0140-6736(96)04451-0.
- Byrne CD, Wareham NJ, Mistry PK, Phillips D, Martensz ND, Halsall D, Talmud PJ, Humphries SE, Hales CN. The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide. Atherosclerosis 1996, 127: 35-42. PMID: 9006802, DOI: 10.1016/s0021-9150(96)05932-1.
- Partridge J, Wallace D, Mistry P, Walker A, Dooley J. Macrophage Ferric Reductase is Not a Marker for Genetic Haemochromatosis. Clinical Science 1996, 91: 8p-8p. DOI: 10.1042/cs091008p.
- Newman C, Bruun B, Porter K, Mistry P, Shanahan C, Weissberg P. Osteopontin Is Not a Marker for Proliferating Human Vascular Smooth Muscle Cells. Arteriosclerosis Thrombosis And Vascular Biology 1995, 15: 2010-2018. PMID: 7583583, DOI: 10.1161/01.atv.15.11.2010.
- Mistry PK. Genotype/phenotype correlations in Gaucher's disease. Lancet 1995, 346: 982-3. PMID: 7475586, DOI: 10.1016/s0140-6736(95)91680-6.
- NEWMAN CM, BRUUN BC, MISTRY PK, WEISSBERG PL, SHANAHAN CM. High Expression of Osteopontin mRNA in Human Macrophages but Not Human Vascular Smooth Muscle Cells in Culture. Annals Of The New York Academy Of Sciences 1995, 760: 381-382. PMID: 7785923, DOI: 10.1111/j.1749-6632.1995.tb44663.x.
- Newman C, Bruun B, Mistry P, Weissberg P, Shanahan C. Osteopontin is Highly Expressed in Human Macrophages but Not Human Vascular Smooth Muscle Cells in Culture. Clinical Science 1995, 88: 29p-29p. DOI: 10.1042/cs088029pa.
- Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. Journal Of Medical Genetics 1993, 30: 889. PMID: 8301642, PMCID: PMC1016594, DOI: 10.1136/jmg.30.11.889.
- Mistry PK, Davies S, Corfield A, Dixon AK, Cox TM. Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase. The Quarterly Journal Of Medicine 1992, 83: 541-6. PMID: 1484931.
- Mistry PK, Smith SJ, Ali M, Cox T, Hatton C, McIntyre N. Genetic diagnosis of Gaucher's disease. The Lancet 1992, 339: 889-892. PMID: 1348297, DOI: 10.1016/0140-6736(92)90928-v.
- Mistry P, Seymour CA. Primary biliary cirrhosis--from Thomas Addison to the 1990s. QJM 1992, 82: 185-96. PMID: 1631256.
- MISTRY P, VARGHESE Z, POUNDER RE. Short report: plasma aluminium concentration and 24‐hour urinary aluminium excretion before, during and after treatment with sucralfate. Alimentary Pharmacology & Therapeutics 1991, 5: 549-553. PMID: 1793786, DOI: 10.1111/j.1365-2036.1991.tb00524.x.
- Siringo S, McCormick PA, Mistry P, Kaye G, Mclntyre N, Burroughs AK. Prognostic significance of the white nipple sign in variceal bleeding. Gastrointestinal Endoscopy 1991, 37: 51-55. PMID: 2004684, DOI: 10.1016/s0016-5107(91)70621-4.
- NWOKOLO CU, MISTRY P, POUNDER RE. The absorption of bismuth and salicylate from oral doses of Pepto‐Bismol (bismuth salicylate). Alimentary Pharmacology & Therapeutics 1990, 4: 163-169. PMID: 2104082, DOI: 10.1111/j.1365-2036.1990.tb00461.x.
- McCormick PA, Mistry P, Kaye G, Burroughs AK, McIntyre N. Intravenous albumin infusion is an effective therapy for hyponatraemia in cirrhotic patients with ascites. Gut 1990, 31: 204. PMID: 2311979, PMCID: PMC1378381, DOI: 10.1136/gut.31.2.204.
- Nwokolo C, Mistry P, Sawyerr A, Smith J, Prewett E, Pounder R. Variable Absorption of Bismuth from Bismuth-Containing Salts Used in the Management of Peptic Ulceration. Clinical Science 1990, 78: 37p-37p. DOI: 10.1042/cs078037pc.
- Mistry P, Desai K, Burroughs A, Owen J. Abnormal apoe-rich denstty lipoproteins (HDL) in plasma of cirrhotic patients are potent inhibitors of platelet aggregation. Journal Of Hepatology 1989, 9: p6. DOI: 10.1016/0168-8278(89)90099-8.
- Desai K, Bagget C, Bellamy M, Mistry P, Burroughs A, Owen J. INHIBITION OF PLATELET AGGREGATION BY ABNORMAL HIGH DENSITY LIPOPROTEIN PARTICLES IN PLASMA FROM PATIENTS WITH HEPATIC CIRRHOSIS. The Lancet 1989, 333: 693-695. PMID: 2564508, DOI: 10.1016/s0140-6736(89)92207-1.
- Siringo S, McCormick P, Mistry P, Kaye G, Phillips A, Burroughs A. Prognostic significance of the variceal white nipple sign (platelet-fibrin plug) in acute variceal bleeding. Journal Of Hepatology 1989, 9: s228. DOI: 10.1016/0168-8278(89)90630-2.
- Owen JS, Goodall H, Mistry P, Harry DS, Day RC, McIntyre N. Abnormal high density lipoproteins from patients with liver disease regulate cholesterol metabolism in cultured human skin fibroblasts. Journal Of Lipid Research 1984, 25: 919-931. PMID: 6491539, DOI: 10.1016/s0022-2275(20)37730-0.
- Owen J, Mistry P, Goodall H, Chu P, Harry D, Day R, McIntyre N. Low Density Lipoprotein Binding by Cultured Human Skin Fibroblasts; the Inhibitory Effect of High-Density Lipoprotein from Patients with Liver Disease. Clinical Science 1981, 60: 20p-20p. DOI: 10.1042/cs060020p.
- Mistry P, Miller NE, Laker M, Hazzard WR, Lewis B. Individual variation in the effects of dietary cholesterol on plasma lipoproteins and cellular cholesterol homeostasis in man. Studies of low density lipoprotein receptor activity and 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in blood mononuclear cells. The Journal Of Clinical Investigation 1981, 67: 493-502. PMID: 6257763, PMCID: PMC370591, DOI: 10.1172/JCI110058.
- Turner P, Miller N, Chrystie I, Coltart J, Mistry P, Nicoll A, Lewis B. Splanchnic production of discoidal plasma high-density lipoprotein in man. Lancet 1979, 1: 645-6. PMID: 85875, DOI: 10.1016/s0140-6736(79)91083-3.
Locations
1
Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic
Lippard Lab for Clinical Investigation
15 York Street, Ste Klastskin Liver Service
New Haven, CT 06510
1 of 4
- Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease ClinicLippard Lab for Clinical Investigation15 York Street, Ste Klastskin Liver ServiceNew Haven, CT 06510
- Yale New Haven Transplantation Center - Rare DiseasesYale Physicians Building800 Howard Avenue, Fl 4th FloorNew Haven, CT 06519
- Yale Transplant Center; Long Ridge Medical CenterLong Ridge Medical Center260 Long Ridge RoadStamford, CT 06902
- 145 Huguenot St145 Huguenot StreetNew Rochelle, NY 10801
1
Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic
Lippard Lab for Clinical Investigation
15 York Street, Ste Klastskin Liver Service
New Haven, CT 06510
1 of 4
- Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease ClinicLippard Lab for Clinical Investigation15 York Street, Ste Klastskin Liver ServiceNew Haven, CT 06510
- Yale New Haven Transplantation Center - Rare DiseasesYale Physicians Building800 Howard Avenue, Fl 4th FloorNew Haven, CT 06519
- Yale Transplant Center; Long Ridge Medical CenterLong Ridge Medical Center260 Long Ridge RoadStamford, CT 06902
- 145 Huguenot St145 Huguenot StreetNew Rochelle, NY 10801