2009
Gaucher disease: Resetting the clinical and scientific agenda
Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: Resetting the clinical and scientific agenda. American Journal Of Hematology 2009, 84: 205-207. PMID: 19296473, PMCID: PMC2999876, DOI: 10.1002/ajh.21384.Peer-Reviewed Original ResearchThe underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetBone Diseases, MetabolicChildCross-Sectional StudiesDisease ProgressionFemaleGaucher DiseaseGenetic HeterogeneityGenetic Predisposition to DiseaseGenotypeGlucosylceramidaseHumansHypergammaglobulinemiaIncidenceJewsMaleMiddle AgedMultiple MyelomaMutation, MissenseNeoplasmsOrgan SpecificityPhenotypePoint MutationRiskVisceraYoung AdultConceptsMultiple myelomaGaucher diseaseSkeletal diseaseRelative riskCancer riskType 1 Gaucher's diseaseCommon lysosomal storage disorderCross-sectional studyOverall cancer riskProgressive skeletal diseaseAdaptive immune systemLysosomal storage disorderAdult patientsEntire cohortLifetime riskNatural courseHematologic malignanciesRelative sparingHematologic diseasesHigh riskHigh incidencePatientsGBA1 geneHomozygous patientsImmune system
2006
Phenotype variations in Gaucher disease
Mistry P, Germain DP. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s3-s6. PMID: 16644399, DOI: 10.1016/s0248-8663(06)80002-0.Peer-Reviewed Original ResearchConceptsGaucher diseaseClinical manifestationsMajority of patientsRate of progressionGaucher phenotypeHigh inter-individual variabilityGenotype-phenotype correlationDevastating complicationInter-individual variabilityBlood countDisease compartmentsNatural historyDiseaseGlucocerebrosidase activityN370S mutationGenetic modifiersMolecular diagnosisDiagnosisSeverityManifestations