2023
Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry
Mistry P, Bianculli P, Batsu I, Heine W, Oliveira-dos-Santos A, Minini P, Batista J. Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry. Molecular Genetics And Metabolism 2023, 138: 107225. DOI: 10.1016/j.ymgme.2022.107225.Peer-Reviewed Original Research
2012
Phenotypic 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 ResearchRisk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry
Khan A, Hangartner T, Weinreb N, Taylor J, Mistry P. Risk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry. Molecular Genetics And Metabolism 2012, 105: s39-s40. DOI: 10.1016/j.ymgme.2011.11.091.Peer-Reviewed Original Research
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
2008
Life expectancy in Gaucher disease type 1
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S. Life expectancy in Gaucher disease type 1. American Journal Of Hematology 2008, 83: 896-900. PMID: 18980271, PMCID: PMC3743399, DOI: 10.1002/ajh.21305.Peer-Reviewed Original ResearchConceptsGD1 patientsLife expectancyGaucher disease type 1Cause of deathICGG Gaucher RegistryType 1 patientsDisease type 1Gaucher disease type 1 patientsLife table methodReference populationGaucher RegistryPatientsType 1Table methodStandard life-table methodsU.S. populationSurvival dataBirthExpectancyDeathPopulationMalignancyCardiovascularRegistry