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- W2265248922 abstract "heterogeneous, inborn error of metabolism caused by a deficiency of the lysosomal enzyme acid β-glucosidase, leading to accumulation of glucosylceramide within lysosomes of tissue macrophages in multiple organs. ► Disease manifestations are multisystemic and include splenomegaly, hepatomegaly, anemia, thrombocytopenia, diverse skeletal lesions, bone pain and bone crises. ► Enzyme replacement therapy (ERT) with exogenous acid βglucosidase is standard of care, and can improve symptoms.1,2 and radiographic abnormalities seen in GD patients.3 Established bone manifestations of GD, however, continue to be of concern.3-5 Risk Factors for Fracture in Imiglucerase-treated Gaucher Disease Type 1 Patients in the ICGG Gaucher Registry Patrick Deegan1, Julie L. Batista2 1Lysosomal Disorders Unit, Department of Medicine, Addenbrooke's Hospital, Cambridge, United Kingdom; 2Sanofi Genzyme, Cambridge, MA, USA" @default.
- W2265248922 created "2016-06-24" @default.
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- W2265248922 date "2016-02-01" @default.
- W2265248922 modified "2023-09-28" @default.
- W2265248922 title "Risk factors for fracture in imiglucerase-treated Gaucher disease type 1 patients in the ICGG Gaucher Registry" @default.
- W2265248922 doi "https://doi.org/10.1016/j.ymgme.2015.12.237" @default.
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