Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation.
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation.
A patient with far-advanced adult type Gaucher's disease was treated with solubilized, highly purified placental glucocerebrosidase administered after entrapment in human erythrocytes or by direct intravenous injection. In some instances the enzyme-containing erythrocytes were coated with gamma globulin. No toxic side effects were observed after enzyme infusion. There were suggestive, but not c...
متن کاملA New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کاملEnzyme replacement therapy in Fabry disease: a randomized controlled trial.
CONTEXT Fabry disease is a metabolic disorder without a specific treatment, caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease. OBJECTIVE To evaluate the safety and efficacy of intravenous alpha-gal A for F...
متن کاملEnzyme replacement therapy (ERT) in pompe disease
Pompe disease (OMIM 232300) is an AR glycogenosis due to deficiency of the lysosomal enzyme alpha-glucosidase (GAA). As a result, glycogen storage occurs in muscles and patients present a wide clinical spectrum ranging from early onset severe cardiomyopathy (EOPD) to adult onset forms (LOPD). Severe loss of GAA activity correlates with early onset and severe phenotypes. Residual enzyme activity...
متن کاملEnzyme replacement therapy for Fabry disease: proving the clinical benefit.
Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme a-galactosidase A (a-Gal A). The lack of a-Gal A leads to incomplete metabolism and progressive lysosomal accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3). This process causes damage to endothelial, perithelial and smooth-muscle cells of the vascular system, glomerula...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1977
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.74.10.4620