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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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Recombinant Enzyme Replacement Therapy in Hypophosphatasia
2015Hypophosphatasia (HPP) is a rare monogenetic and multisystemic disease with involvement of different organs, including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The exact metabolic mechanisms of the effects of TNAP deficiency in different tissues are not understood in detail.
Christine, Hofmann +7 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 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: 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 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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Enzyme replacement therapy for Gaucher disease
Expert Opinion on Biological Therapy, 2008Gaucher 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,
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2004
AbstractThis chapter traces the development of the field of enzyme replacement. It explores the major remaining problem — i.e., treatment of lysosomal storage diseases with a major neurologic component, because of insulation of the brain from the therapeutic enzyme by the blood-brain barrier.
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AbstractThis chapter traces the development of the field of enzyme replacement. It explores the major remaining problem — i.e., treatment of lysosomal storage diseases with a major neurologic component, because of insulation of the brain from the therapeutic enzyme by the blood-brain barrier.
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Pancreatic enzyme replacement therapy in chronic pancreatitis
Best Practice & Research Clinical Gastroenterology, 2010Exocrine pancreatic insufficiency (EPI) is a serious condition which occurs in several diseases including chronic pancreatitis (CP), cystic fibrosis, pancreatic cancer, and as a result of pancreatic surgery. The lack or absence of pancreatic enzymes leads to an inadequate absorption of fat, proteins, and carbohydrates, causing steatorrhoea and ...
Sikkens, Edmee +3 more
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Enzyme replacement therapy for the management of the mucopolysaccharidoses
Int. Journal of Clinical Pharmacology and Therapeutics, 2009Enzyme replacement therapy (ERT) is now available for several of the mucopolysaccharidosis disorders. This brief review summarizes the role of ERT in reducing the burden of peripheral disease in many patients with mucopolysaccharidosis disorders, and describes the challenges that remain in treating the neurological manifestations of these conditions.
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