2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
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.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionSARS-CoV-2Gaucher diseaseAcid β-glucosidase activitySARS-CoV-2 nucleic acidCOVID-19-specific treatmentsMajority of patientsChronic inflammatory stateCross-sectional studyHigher antibody responseCOVID-19 symptomsCOVID-19 exposureRare disease populationSubset of adultsGBA genotypeQuantitative titersPrior splenectomyAntibody testingHigh morbidityImmune activationInflammatory statePrimary exposureAntibody responseChronic disordersMale gender
2019
Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease
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.Peer-Reviewed Original ResearchGaucher disease type 1Bilateral sequential lung transplantationPulmonary hypertensionLung transplantationGaucher cellsSuccessful bilateral sequential lung transplantationEnd-stage pulmonary hypertensionGroup 1 pulmonary hypertensionPre-transplant comorbiditiesPulmonary parenchymal diseasePulmonary vasodilator therapyPost-transplant courseSevere pulmonary hypertensionAcute renal failurePulmonary arterial hypertensionExtracorporeal membrane oxygenationInterstitial lung diseaseLong-term treatmentPrevious case reportsEnzyme replacement therapyDisease type 1Vasodilator therapyArterial hypertensionLung transplantPrior splenectomy
2018
Hepatocellular carcinoma in Gaucher disease: an international case series
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.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaCase seriesGD patientsIron overloadChronic hepatitis C infectionGaucher diseaseDevelopment of HCCLiver-specific complicationsHepatitis C infectionInternational case seriesDifferent referral centersMain risk factorsType 1 patientsGD type 1 patientsGD pathogenesisC infectionPrior splenectomyReferral centerLiver cirrhosisHistopathological examinationTransferrin saturationHCC riskLiver fibrosisRisk factorsHCC development
2010
Hyperferritinemia and iron overload in type 1 Gaucher disease
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.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalence