Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A. Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients. Seminars In Hematology 2004, 41: 15-22. PMID: 15468046, DOI: 10.1053/j.seminhematol.2004.07.010.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseAdult patientsGaucher diseaseVariable progression ratesVisceral organ involvementPatient-reported qualitySF-36 surveyComplete physical examinationSignificant clinical complicationsFamily medical historyRadiologic imaging techniquesPotential permanent disabilityOrgan involvementClinical complicationsPhysical examinationMedical historySerial monitoringSkeletal involvementTherapy dosePermanent disabilityProgression rateTreatment statusTherapeutic goalsClinical heterogeneityPatients