Results 311 to 320 of about 249,219 (350)

Enzyme Replacement Therapy for the Sphingolipidoses

1976
The 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 ...
G. E. Mook, Peter G. Pentchev, Roscoe O. Brady, John W. Kusiak, John F. Tallman, Andrew E. Gal, Sue R. Hibbert, A. S. Dekaban, Jane M. Quirk   +8 more
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Enzyme Replacement Therapy for Pompe Disease

Current Neurology and Neuroscience Reports, 2011
Late-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 in Mucopolysaccharidosis I

New England Journal of Medicine, 2001
Mucopolysaccharidosis 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, Joseph Muenzer, George E. Tiller, Lewis Waber, John Belmont, Merry Passage, Barbara Izykowski, Jeffrey Phillips, Robin Doroshow, Irv Walot, Richard Hoft, Kian Ti Yu, Susie Okazaki, Dave Lewis, Ralph Lachman, Jerry N. Thompson, Elizabeth F. Neufeld   +16 more
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Fabry disease: enzyme replacement therapy

Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTFabry 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 ...
Maria Rita Bongiorno, Maurizio Aricò, Giuseppe Pistone   +2 more
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Enzyme Replacement Therapy of Fabry Disease

Molecular Neurobiology, 2005
Fabry 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
R. Mark Iwanochko, R. Mark Iwanochko, Joe T.R. Clarke   +2 more
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Recombinant Enzyme Replacement Therapy in Hypophosphatasia [PDF]

, 2015
Hypophosphatasia (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, Horacio Plotkin, Franz Jakob, Birgit Mentrup, Hermann J. Girschick, Stephanie Graser, Johannes G. Liese, Lothar Seefried   +7 more
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Enzyme replacement therapy for the management of the mucopolysaccharidoses

Int. Journal of Clinical Pharmacology and Therapeutics, 2009
Enzyme 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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Enzyme replacement therapy for Gaucher disease

Expert Opinion on Biological Therapy, 2008
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,
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Enzyme replacement therapy for Gaucher disease in Australia

Internal Medicine Journal, 2002
AbstractAim:  To study the effectiveness of a specific national programme of enzyme replacement therapy (ERT) for patients with severe forms of Gaucher disease, a disorder of sphingolipid metabolism resulting from an inherited deficiency of the lysosomal enzyme β‐Glucocerebrosidase.Methods:  Prospective analysis of data submitted at entry and every 6 ...
Goldblatt, J., Szer, J., Fletcher, J., McGill, J., Rowell, J., Wilson, M.   +5 more
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20 Enzyme Replacement Therapy

1983
Publisher Summary This chapter discusses the recent developments in the field of enzyme replacement therapy, describes the successes achieved, and indicates procedures that are expected to improve prospects for enzyme replacement therapy in the future.
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