2014
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 72-81. PMID: 25345088, PMCID: PMC4520262.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Gaucher diseaseNatural historyAvascular osteonecrosisType 1 Gaucher diseaseComplex multisystem phenotypeStandard of careProgressive neurodegenerative diseaseType 3 diseaseEnzyme replacement therapyDisease type 1Bone involvementLysosomal storage disorderLytic lesionsReplacement therapyTreatment optionsBone marrowType 2Clinical phenotypeMetabolic defectsType 1Multisystem phenotypeNeurodegenerative diseasesBiallelic mutationsDisease
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 diagnosisDiagnosisSeverityManifestationsPhenotype variations in Gaucher disease
Germain D, Mistry P. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s7-s10. DOI: 10.1016/s0248-8663(06)80003-2.Peer-Reviewed Original ResearchGaucher diseaseClinical manifestationsMajority of patientsRate of progressionGaucher phenotypeHigh inter-individual variabilityDevastating complicationInter-individual variabilityBlood countDisease compartmentsNatural historyDiseaseGlucocerebrosidase activityN370S mutationGenetic modifiersMolecular diagnosis