2010
A reappraisal of Gaucher disease—diagnosis and disease management algorithms
Mistry PK, Cappellini MD, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G. A reappraisal of Gaucher disease—diagnosis and disease management algorithms. American Journal Of Hematology 2010, 86: 110-115. PMID: 21080341, PMCID: PMC3058841, DOI: 10.1002/ajh.21888.Peer-Reviewed Original ResearchConceptsGaucher diseaseType 1 Gaucher diseaseDisease management algorithmsEffective enzyme replacement therapyOnset of symptomsFirst lysosomal storage disorderEnzyme replacement therapy
2008
Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists
Mistry P, Cappellini M, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman N, Massenkeil G. Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists. Blood 2008, 112: 4648. DOI: 10.1182/blood.v112.11.4648.4648.Peer-Reviewed Original ResearchDisease management algorithmsDifferential diagnosisGaucher diseaseImiglucerase enzyme replacement therapyDiagnostic algorithmType 1 Gaucher diseaseMajority of patientsPresence of splenomegalyMinority of patientsSimple diagnostic algorithmRisk of malignancyEnzyme replacement therapySubstrate reduction therapyBeta-glucocerebrosidase activityAshkenazi Jewish backgroundPresenting manifestationSkeletal complicationsDiagnostic delaySuch patientsHaematologic malignanciesIrreversible complicationsMultiple myelomaProtean manifestationsReplacement therapyDiagnostic challenge