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  • Title: Total glycolipid and glucosylceramide content in serum and urine of patients with Gaucher's disease type 3 before and after enzyme replacement therapy.
    Author: Gornati R, Bembi B, Tong X, Boscolo R, Berra B.
    Journal: Clin Chim Acta; 1998 Mar 23; 271(2):151-61. PubMed ID: 9565330.
    Abstract:
    The follow-up of Gaucher's patients under enzyme replacement therapy is generally based both on the clinical aspects and the evaluation of haematological parameters: haemoglobin level, platelet count, acid and alkaline phosphatase activities. Spleen and liver volumes are also reliable criteria for evaluating the improvement of the patients. The determination of glycolipid excretion in the urine and/or the quantification of glycolipids in serum can also be a useful tool for the screening and the follow up of patients with lysosomal storage disease including Gaucher's disease. In this paper we report the follow-up of three patients with Gaucher type 3; in order to test the efficacy of the enzyme replacement therapy with alglucerase in these patients, we evaluated the urine and plasma glucosylceramide content as a marker parallel to the clinical improvement and the decreased organomegaly.
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