Individualization of long-term enzyme replacement therapy for Gaucher disease
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy for Gaucher disease.
Gaucher disease is the most common lysosomal storage disease, and the first lysosomal storage disease for which a specific therapy has been developed. Enzyme replacement therapy, with glucocerebrosidase purified from human placentae, was introduced in 1991. Recombinant human glucocerebrosidase, produced by Chinese hamster ovary cells in tissue culture, became available in 1994 and has replaced ...
متن کاملEnzyme Replacement in Gaucher Disease
118 Gaucher disease is the most common lysosomal storage disorder (Box 1). A defi ciency of the enzyme glucocerebrosidase (Figure 1) causes accumulation of the glycolipid glucocerebroside in macrophages throughout the body. In the viscera, glucocerebroside arises mainly from the biodegradation of red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipid...
متن کاملLong-Term Effect of Enzyme Replacement Therapy with Fabry Disease
Objective. To determine the effects of enzyme replacement therapy (ERT) on the hearing acuity in patients with Fabry disease. Materials. The study sample comprised 34 ears of 17 affected patients who underwent pure-tone audiometry before and after ERT. Methods. The patients were studied in relation to factors such as changes in hearing, presence of accompanying symptoms, status of renal and car...
متن کاملGaucher disease with nephrotic syndrome: response to enzyme replacement therapy.
Nephrotic syndrome in patients with Gaucher disease is rare; most of the few reported cases have had a well-defined glomerulopathy often with Gaucher cells in the glomeruli. We report the case of a 54-year-old woman with Gaucher disease, who had splenectomy at age 25, preeclampsia with renal biopsy disclosing only endotheliosis at age 32, and improvement of proteinuria and reappearance of heavy...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2005
ISSN: 1098-3600,1530-0366
DOI: 10.1097/01.gim.0000153660.88672.3c