2023
Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism
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.Peer-Reviewed Original Research
2022
Rare lysosomal disease registries: lessons learned over three decades of real-world evidence
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.Peer-Reviewed Original ResearchTransformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
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.Peer-Reviewed Original Research
2021
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
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.Peer-Reviewed Case Reports and Technical NotesConceptsSARS-CoV-2 infectionType 1 Gaucher diseaseSARS-CoV-2Gaucher diseaseRare diseaseCOVID-19Immune system dysfunctionRare disease populationMedian agePediatric patientsCase seriesFemale patientsAdverse outcomesClinical spectrumIntensive careGD patientsSystem dysfunctionRetrospective analysisDisease populationHigh riskGeneral populationPatientsImmune systemDiseaseSimilar frequency
2016
Overcoming the Next Barriers to Successful Therapy.
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.Peer-Reviewed Original Research
2011
Reducing selection bias in case-control studies from rare disease registries
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.Peer-Reviewed Original Research