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
2005
Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature
Xu R, Mistry P, Mckenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel M. Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature. Seminars In Liver Disease 2005, 25: 226-229. PMID: 15918150, DOI: 10.1055/s-2005-871201.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseHepatocellular carcinomaGaucher diseaseLiver transplantationInborn errorsType 1 Gaucher's diseaseNecessitating liver transplantationNon-neuronopathic diseaseDevelopment of cirrhosisMajority of patientsStandard of careRisk of malignancyEnzyme replacement therapyDeficiency of glucocerebrosidaseRare inborn errorVariety of neoplasmsAutosomal recessive disorderMarrow infiltrationPulmonary diseaseSupplemental therapyReplacement therapyCase reportLysosomal storage diseaseTissue macrophagesType 2