Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at th...
متن کاملMucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children☆
Clinical and biochemical improvements are reported on Mucopolysaccharidosis type VI (MPS VI) patients on Enzyme Replacement Therapy (ERT) with rhASB (galsulfase, Naglazyme®), and preclinical and clinical studies have shown clinical benefits of early initiation. We report four unrelated MPS VI children who began ERT as infants (ages 5 days–10 months). The three older patients showed the first cl...
متن کاملDRUG EVALUATION Idursulfase for enzyme-replacement therapy in mucopolysaccharidosis II
10.2217/14750708.4.3.231 © 2 Hunter syndrome (mucopolysaccharidosis II) is a rare, X-linked disorder caused by the missing or deficient lysosomal enzyme, iduronate-2-sulfatase, which leads to tissue and organ accumulation of glycosaminoglycans, resulting in multisystem dysfunction with death occurring most commonly in the first or second decade of life. Enzyme-replacement therapy with idursulfa...
متن کاملAnti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI
BACKGROUND Although enzyme replacement therapy (ERT) is available for several lysosomal storage disorders, the benefit of this treatment to the skeletal system is very limited. Our previous work has shown the importance of the Toll-like receptor 4/TNF-alpha inflammatory pathway in the skeletal pathology of the mucopolysaccharidoses (MPS), and we therefore undertook a study to examine the additi...
متن کاملPhase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
BACKGROUND Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many organs and tissues contributing to the pathology associated with MPS II. The objective of this phase I/II clinical study was to evaluate the efficacy...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2012
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-011-9444-z