PramodKMistryMDMB BS, FRCP, PhD

PubMed

• Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise.
  I C Verma, A El-Beshlawy, A Tylki-Szymańska, A Martins, Y-L Duan, T Collin-Histed, M Schoneveld van der Linde, R Mansour, V C Dũng, Pramod K Mistry> ;Orphanet journal of rare diseases. 2022 Apr 4
• Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease.
  Kunal Adhyaru, Sherna Menezes, Pramod K Mistry, Aabha Nagral> ;Cureus. 2022 Apr 1
• Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlyi...
  Guillermo Drelichman, N. Fernandez Escobar, Barbara C. Soberon, Nora Basack, J. Frabasil, Andrea Schenone, Gabriel Aguilar, Maria Silvia Larroude, J. Knight, D. Zhao, ...> ;Molecular genetics and metabolism reports. 2021 Nov 11
• 2 citations
  Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.
  Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch> ;Neurology Genetics. 2021 Jul 28
• 1 citations
  Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease.
  Nathaniel Kleytman, Jiapeng Ruan, Audrey Ruan, Bailin Zhang, Vagishwari Murugesan, Haiqun Lin, Lilu Guo, Katherine W. Klinger, Pramod K. Mistry> ;Molecular genetics and metabolism reports. 2021 Aug 28
• 2 citations
  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.
  Praveena Narayanan, Shiny Nair, Manisha Balwani, Maricar Malinis, Pramod K. Mistry> ;Molecular Genetics and Metabolism. 2021 Aug 13
• 3 citations
  Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
  Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P. Shankar, Hagit Baris Feldman, Marwan Ghosn, Atul Mehta, Seymour Packman, Heather Lau, Milan Petakov, Sarit ...> ;American Journal of Hematology. 2021 Sep 1
• 6 citations
  Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.
  Neal J. Weinreb, José Simon Camelo, Joel Charrow, Monica R. McClain, Pramod K. Mistry, Nadia Belmatoug> ;Molecular Genetics and Metabolism. 2021 Jan 8
• 12 citations
  Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
  Luca Fierro, Nora Nesheiwat, Hetanshi Naik, Praveena Narayanan, Pramod K. Mistry, Manisha Balwani> ;Molecular Genetics and Metabolism. 2021 Jan 1
• 8 citations
  Gaucher disease: Basic and translational science needs for more complete therapy and management.
  Gregory A. Grabowski, Armand H. Matheny Antommaria, Edwin H. Kolodny, Pramod K. Mistry> ;Molecular Genetics and Metabolism. 2021 Feb 1
• 3 citations
  Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
  Simon Jones, Margaret M. McGovern, Olivier Lidove, Roberto Giugliani, Pramod K. Mistry, Carlo Dionisi-Vici, Maria Veronica Munoz-Rojas, L Nalysnyk, Alison D. Schecter,...> ;Molecular Genetics and Metabolism. 2020 Jun 24
• 4 citations
  Update on Alpha-1 Antitrypsin Deficiency in Liver Disease.
  Praveena Narayanan, Pramod K. Mistry> ;Clinics in Liver Disease. 2020 Jun 1
• 14 citations
  Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
  Pramod K. Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, He...> ;Molecular Genetics and Metabolism. 2020 Jul 1
• 7 citations
  Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
  Pramod K. Mistry, Manisha Balwani, Joel Charrow, Priya S. Kishnani, Claus Niederau, Lisa H. Underhill, Monica R. McClain> ;American Journal of Hematology. 2020 May 21
• 10 citations
  Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.
  Emily Gao, Huma Arshad Cheema, Nadia K. Waheed, Iqra Mushtaq, Nihan Erden, Carol Nelson-Williams, Dhanpat Jain, Carol J. Soroka, James L. Boyer, Youssef Khalil, Peter ...> ;Hepatology. 2020 May 1
• 2 citations
  The Road to Biosimilars in Rare Diseases – Ongoing Lessons from Gaucher Disease
  Guillermo Drelichman, Gilberto Castañeda-Hernández, Muhlis Cem Ar, Marta Dragosky, Ricardo Sola Garcia, Howard Lee, Sergey Moiseev, Majid Naderi, Hanna Rosenbaum, Iren...> ;American Journal of Hematology. 2020 Mar 1
• 15 citations
  Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
  Shiny Nair, Noffar Bar, Mina L. Xu, Madhav V. Dhodapkar, Pramod K. Mistry> ;Molecular Genetics and Metabolism. 2020 Feb 5
• 3 citations
  Etiology of cirrhosis in the young.
  Maria C. Olave, Ananta Gurung, Pramod K. Mistry, Sanjay Kakar, Matthew M. Yeh, Min Xu, Tsung Teh Wu, Michael Torbenson, Dhanpat Jain> ;Human Pathology. 2020 Feb 1
• 6 citations
  Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual partici...
  Tatiana Raskovalova, Patrick Deegan, Pramod K. Mistry, Elena Pavlova, Ruby Yang, Ari Zimran, Juliette Berger, Céline Bourgne, Bruno Pereira, José Labarère, Marc G. Berger> ;Haematologica. 2020 Jan 30
• 10 citations
  Exome Sequencing in Clinical Hepatology
  Silvia Vilarinho, Pramod K. Mistry> ;Hepatology. 2019 Dec 1
• 4 citations
  Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.
  Amal El Beshlawy, Vagishwari Murugesan, Pramod K. Mistry, Khaled Eid> ;Molecular genetics and metabolism reports. 2019 Jun 28
• 5 citations
  Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease.
  Yuliya Afinogenova, Jiapeng Ruan, Ruhua Yang, Nathaniel Kleytman, Gregory M. Pastores, Andrew Lischuk, Pramod K. Mistry> ;Molecular Genetics and Metabolism. 2019 Jul 23
• 1 citations
  Reply to: "Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges".
  Aaron Hakim, Pramod K. Mistry, Silvia Vilarinho> ;Journal of Hepatology. 2019 Aug 1
• 3 citations
  Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease
  Gillian C. Goobie, Sandra Sirrs, John Yee, John C. English, Celine Bergeron, Roland Nador, John R. Swiston, Pramod K. Mistry, Wendy Paquin, Robert D. Levy> ;Respiratory medicine case reports. 2019 Jun 29
• 2 citations
  Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
  Snezana Vujosevic, Sanja Medenica, Vesko Vujicic, Milena Dapcevic, Nikola Bakic, Ruhua Yang, Jun Liu, Pramod K. Mistry> ;World Journal of Clinical Cases. 2019 Jun 26
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Lectures

• D is for Diagnosis: Solving the Mystery of Rare Hematologic Disorders 
  60th American Society of Hematology Annual Meeting - 11/30/2018