2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. American Journal Of Hematology 2017, 92: 929-939. PMID: 28569047, PMCID: PMC5600096, DOI: 10.1002/ajh.24801.Peer-Reviewed Original ResearchConceptsImiglucerase enzyme replacement therapyEnzyme replacement therapyNon-splenectomized patientsAge groupsBone crisesERT initiationBone eventsBone manifestationsReplacement therapyLow prevalenceInitiation of ERTIntroduction of ERTInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Severe clinical manifestationsType 1 patientsDisease type 1Gaucher disease type 1 patientsGD1 patientsSkeletal complicationsCertain age groupsAdult patientsPediatric patientsTreatment initiationGaucher Registry
2010
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype
Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype. American Journal Of Hematology 2010, 85: 340-345. PMID: 20425796, PMCID: PMC2875938, DOI: 10.1002/ajh.21684.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseGaucher diseaseMultiple myelomaMultiple malignanciesMultiple cancersEnzyme replacement therapy statusDiagnosis of GD1Initiation of ERTRate of splenectomySeries of patientsSystemic macrophage activationTypes of malignanciesLymphoma/leukemiaAccumulation of glucosylceramideAsplenic patientsGBA1 genotypeGD1 patientsSequential cancersFirst cancerSplenectomy statusTherapy statusNonhematologic malignanciesHematologic malignanciesIntact spleenProstate cancer
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