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  • Title: Gaucher disease: an overview of clinical characteristics and therapy.
    Author: Kingma W.
    Journal: J Intraven Nurs; 1996; 19(2):79-82. PubMed ID: 8852167.
    Abstract:
    Gaucher disease is the most prevalent hereditary metabolic storage disorder. The metabolic defect in Gaucher disease is a deficiency of the lysosomal enzyme glucocerebrosidase. Patients with Gaucher disease may present with the following symptoms: hepatosplenomegaly, anemia, thrombocytopenia, bone involvement (pathologic fractures and bone pain), and, more rarely pulmonary, renal, cardiac, and central nervous system involvement. Since 1991, Ceredase (Genzyme Corporation, Cambridge, MA) (alglucerase) and since 1994, Cerezyme (Genzyme Corporation, Cambridge, MA) (imiglucerase for injection), have provided long-term successful treatment for more than 1400 patients with Gaucher disease.
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