2012
Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.
Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clinical Advances In Hematology And Oncology 2012, 10: 1-16. PMID: 22895100.Peer-Reviewed Original ResearchConceptsGaucher diseaseType 2 Gaucher's diseaseDisease state awarenessNon-neuronopathic diseaseVariable neurologic manifestationsRisk of complicationsType 3 diseaseCentral nervous systemExpert roundtable discussionQuality of lifeLysosomal enzyme glucocerebrosidaseRange of signsSkeletal complicationsLysosomal storage disorderNeurologic complicationsNeurologic manifestationsAshkenazi Jewish descentHematologic manifestationsHematologic sequelaeOcular effectsAccumulation of glycolipidsOncology cliniciansDifferential diagnosisAppropriate treatmentEarly diagnosis
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