2021
Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
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.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptoms
2019
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
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.Peer-Reviewed Original ResearchImiglucerase enzyme replacement therapyEnzyme replacement therapyHepatopulmonary syndromeReplacement therapyGaucher diseaseLiver diseaseRecombinant enzyme replacement therapyAdvanced liver diseaseLife-threatening complicationsAdvanced fibrosisFibrotic featuresMassive hepatomegalySplenectomized patientsClinical manifestationsEnzyme therapySyndromeTherapyDisease pathologyDiseaseComplicationsMacrophagesCirrhosisHepatomegalyPatientsFibrosisAddendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1
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.Peer-Reviewed Original Research
2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
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.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Disease type 1Type 1Oral substrate reduction therapyGaucher diseaseFirst-line therapyFirst-line treatmentTreatment of adultsCare of patientsEnzyme replacement therapyMonitoring of patientsPanel of physiciansSubstrate reduction therapyEliglustat therapyReplacement therapyMultisystem diseaseClinical trialsReduction therapyBone marrowTherapySkeletal diseaseEliglustatLysosomes of cellsDeficient activityDisease
2013
Calcium Ameliorates Diarrhea in Immunocompromised Children
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.Peer-Reviewed Original ResearchRare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy
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.Peer-Reviewed Original Research
2012
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice
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.Peer-Reviewed Original ResearchConceptsMacrophage-directed therapiesConnectivity mappingAutoimmune diathesisDisease miceImmune cellsNew agentsMice resultsLiver cellsGlucocerebrosidase geneDrug pairsInstitute databaseDisease phenotypeMiceDisease-drug pairsDiverse populationsCMAPCellsGammopathyDysfunctionTherapyDiathesisFuture testingAlbendazoleDiseasePhenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry
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.Peer-Reviewed Original Research
2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy
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.Peer-Reviewed Original ResearchConceptsFocal splenic lesionsEnzyme replacement therapyGD1 patientsReplacement therapySplenic lesionsMacrophage-targeted enzyme replacement therapyPlatelet responseYears of ERTPrevalence of osteonecrosisGaucher disease type IDeterminants of responseType IPoor plateletsAvascular osteonecrosisSuboptimal responseSevere manifestationsSplenic responseIntact spleenClinical significanceSplenic parenchymaPatientsWorse thrombocytopeniaRoutine evaluationSplenomegalyTherapy
2009
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
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.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge DistributionAge FactorsAgedChildChild, PreschoolDrug Administration ScheduleEnzyme Replacement TherapyFemaleGaucher DiseaseGlucosylceramidaseHumansIncidenceInfantInfant, NewbornMaleMiddle AgedOsteonecrosisRecombinant ProteinsRegistriesSex DistributionSplenectomyTime FactorsYoung AdultConceptsType 1 Gaucher diseaseYear of diagnosisAvascular necrosisIncidence rateEnzyme replacement therapyGaucher RegistryReplacement therapyInternational Collaborative Gaucher Group Gaucher RegistryRisk of AVNGaucher diseaseAdjusted incidence rate ratioInitiation of ERTIndependent risk factorIncidence rate ratiosTiming of initiationRisk factorsHigh riskPatientsDiagnosisTherapyRate ratioSplenectomyRegistryNecrosisIncidence
2004
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
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.Peer-Reviewed Original Research
2002
Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease
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.Peer-Reviewed Original ResearchConceptsDiagnosis of PHPulmonary hypertensionCardiac catheterizationEvidence of PHNormal pulmonary artery pressureOpen lung biopsyPulmonary artery pressureArtery pressureDobutamine echocardiographyLung biopsyEchocardiographic assessmentReplacement therapyPatient managementPatientsEchocardiographyGaucher diseaseGaucher patientsDiseaseHypertensionCatheterizationType IDiagnosisComplicationsBiopsyTherapy
1997
12 A practical approach to diagnosis and management of Gaucher's disease
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.Peer-Reviewed Original ResearchConceptsGaucher diseaseAdditional prognostic informationPeripheral blood leukocytesMaximum therapeutic responseAcid beta-glucosidase activityAdjuvant therapyDisease activityLaboratory parametersHistological diagnosisDisease progressionPrognostic informationTherapeutic responseSerial measurementsIndividual patientsBlood leukocytesChitotriosidase activityEnzyme therapyOptimal timingDiseaseTherapyDiagnosisCellular burdenTreatmentSpecial considerationBeta-glucosidase activity
1990
Intravenous albumin infusion is an effective therapy for hyponatraemia in cirrhotic patients with ascites.
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.Peer-Reviewed Original ResearchConceptsIntravenous albumin infusionAlbumin infusionEffective therapyDecompensated liver diseaseFulminant hepatitis BLiver transplantationCirrhotic patientsHepatitis BSevere hyponatraemiaLiver diseaseIntravenous infusionHyponatraemiaPatientsPreliminary experienceInfusionCirrhosisAscitesTherapyTreatmentSurgeryTransplantationDisease