2019
Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.Peer-Reviewed Original ResearchEnzyme replacement therapyGaucher diseaseType 1 Gaucher diseaseDeposition of glucocerebrosideGene mutationsCommon lysosomal storage disorderBone mineral densityErlenmeyer flask deformityBone painAbdominal painLysosomal storage disorderReplacement therapyMineral densityVisceral parametersDistal femurPatientsSignificant progressionClinical phenotypeSystem cellsBiallelic mutationsStorage disorderLysosomal glucocerebrosidasePainPhenotype correlationSymptoms
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