2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry
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.Peer-Reviewed Original ResearchIndividuals of Ashkenazi Jewish descentAshkenazi Jewish descentARSA geneIndividuals of Ashkenazi Jewish ancestryFounder variantAshkenazi Jewish populationJewish descentAshkenazi Jewish ancestryBi-allelic pathogenic variantsCompound heterozygous stateNeurodegenerative lysosomal storage diseaseGait abnormalitiesPhysical declineScreening programProtein modelsMetachromatic leukodystrophyPathogenic variantsJewish ancestryCompound heterozygosityLysosomal storage diseaseGenesArsAHeterozygous stateSevere phenotypeLate infantile metachromatic leukodystrophy
2017
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
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.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyDiagnostic guidelinesSphingomyelinase deficiencyPrimary care providersTreatment/managementSpectrum of severityFatal lysosomal storage diseaseSymptom controlDisease specialistsNeurovisceral diseaseMultisystem involvementConsensus recommendationsLysosomal storage diseaseAmerican CollegeASMD patientsCare providersVisceral formEnzyme acid sphingomyelinaseMetabolic defectsEvidence baseRegular assessmentTarget tissuesStorage diseaseDisease managementLaboratory evaluation
2016
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues
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.Peer-Reviewed Original Research
2005
Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature
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.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseHepatocellular carcinomaGaucher diseaseLiver transplantationInborn errorsType 1 Gaucher's diseaseNecessitating liver transplantationNon-neuronopathic diseaseDevelopment of cirrhosisMajority of patientsStandard of careRisk of malignancyEnzyme replacement therapyDeficiency of glucocerebrosidaseRare inborn errorVariety of neoplasmsAutosomal recessive disorderMarrow infiltrationPulmonary diseaseSupplemental therapyReplacement therapyCase reportLysosomal storage diseaseTissue macrophagesType 2
2001
Metabolic liver disease
Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.Peer-Reviewed Original ResearchTherapeutic optionsAlpha-1-antitrypsin diseaseExciting new therapeutic optionsAcute liver failureNew therapeutic optionsMetabolic liver diseaseIron overload disordersLiver failureLiver diseaseLysosomal storage diseaseMetabolic diseasesWilson's diseaseOverload disordersDiseaseStorage diseaseLiverTreatmentNovel metabolic pathwaysMetabolic pathwaysReviewOptionsPathogenesisHemochromatosisPathwayDiagnosis
2000
The clinical expression of Gaucher disease correlates with genotype: Data from 570 patients
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.Peer-Reviewed Original ResearchN370S/N370SN370S/L444PNeurologic symptomsL444P/L444PL444P/L444P genotypeCommon genotypeLarger spleen volumeSevere neurologic symptomsAortic valve calcificationCommon lysosomal storage diseaseDeficiency of glucocerebrosidaseRadiologic evidenceClinical symptomsValve calcificationHematologic changesSpleen volumeClinical signatureClinical expressionBone diseaseLysosomal storage diseaseN370S allelePatientsAdult disordersBone fracturesGaucher disease