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Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency.
Current Medicinal Chemistry, 2021Mutations in human genes might lead to loss of functional proteins, causing diseases. Among these genetic disorders, a large class is associated with the deficiency in metabolic enzymes, resulting in both an increase in the concentration of substrates ...
Marialaura Marchetti +2 more
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Pancreatic enzyme replacement therapy
Current Gastroenterology Reports, 2001Malabsorption due to severe pancreatic exocrine insufficiency is one of the most important late features of chronic pancreatitis. Generally, steatorrhea is more severe and occurs several years prior to malabsorption of other nutrients because synthesis and secretion of lipase are impaired more rapidly, its intraluminal survival is shorter, and the lack
P, Layer, J, Keller, P G, Lankisch
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Fabry disease: enzyme replacement therapy
Journal of the European Academy of Dermatology and Venereology, 2003ABSTRACTFabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X‐linked lysosomal storage disorder caused by a deficiency of α‐galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with α‐galactosyl moieties consisting predominantly of ...
M R, Bongiorno, G, Pistone, M, Aricò
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Enzyme-replacement therapy: Problems and prospects
Pharmaceutisch Weekblad Scientific Edition, 1989Several diseases can, at least in theory, be treated by the administration of an enzyme, the deficiency of which is the cause of the disease. Various attempts have been made to correct enzymatic deficiencies responsible for the clinical manifestation of diseases for which prevention cannot be achieved by modification of the diet or by supportive ...
B, Rademaker, J, Raber
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Enzyme-Replacement Therapy in Mucopolysaccharidosis I
New England Journal of Medicine, 2001Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder.We treated 10 patients with mucopolysaccharidosis I (age, 5 to 22 years) with recombinant human alpha-L ...
Emil D. Kakkis +16 more
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Trends in Biochemical Sciences, 1981
ABSTRACT: Of the many genetic diseases which are now known to be due to an enzyme deficiency, the glycolipid storage diseases are among those which are most likely to yield to enzyme replacement therapy. To be successful, such therapy requires the availability of relatively pure enzyme from a human source, delivery of the enzyme to the storage cell ...
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ABSTRACT: Of the many genetic diseases which are now known to be due to an enzyme deficiency, the glycolipid storage diseases are among those which are most likely to yield to enzyme replacement therapy. To be successful, such therapy requires the availability of relatively pure enzyme from a human source, delivery of the enzyme to the storage cell ...
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Enzyme Replacement Therapy of Fabry Disease
Molecular Neurobiology, 2005Fabry disease is an X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A and results in pain, progressive renal impairment, cardiomyopathy, and cerebrovascular disease. The results of two major randomized, double-blind, placebo-controlled clinical trials and open-label extensions have shown that replacement of the
Joe T R, Clarke, R Mark, Iwanochko
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Enzyme replacement therapy in Fabry disease
Journal of Inherited Metabolic Disease, 2001AbstractRecent clinical trials have demonstrated that enzyme replacement therapy with α‐galactosidase A (α‐Gal A) constitutes a major clinical advance in the treatment of patients with Fabry disease. This new therapeutic approach has been shown to be well tolerated and effective in reducing levels of the storage product globo‐triaosylceramide and in ...
R O, Brady +3 more
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Enzyme Replacement Therapy for the Sphingolipidoses
1976The greatest progress in the field of inheritable disorders during the past decade was made in the understanding and control of lipid storage diseases. Since original demonstrations in 1965 and 1966 of the metabolic defects in Gaucher’s disease (6,7) Niemann-Pick disease (8), Fabry’s disease (9), and metachromatic leukodystrophy (17), specific enzyme ...
R O, Brady +8 more
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Enzyme Replacement Therapy for Pompe Disease
Current Neurology and Neuroscience Reports, 2011Late-onset glycogenosis type II (glycogen storage disease type II [GSDII]) is a rare autosomal disorder caused by deficiency of acid maltase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Recently, both infantile and adult GSDII patients have been treated with enzyme replacement therapy (ERT), and a number of studies including large cohorts ...
ANGELINI, CORRADO, SEMPLICINI, CLAUDIO
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