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Type: Artigo de periódico
Title: Mucopolysaccharidosis type II: skeletal-muscle system involvement
Author: Morini, SR
Steiner, CE
Gerson, LBP
Abstract: Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate. Lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. The skeletal-muscle system involvement is because of essential accumulated GAGs in joints and connective tissue. MPS-II has many clinical features and includes two recognized clinical entities, mild and severe, that represent two ends of a wide spectrum of clinical severity. The aim of this study is to review the involvement of the skeletal-muscle system in MPS-II. J Pediatr Orthop B 19:313-317 (c) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
Subject: Hunter syndrome
lysosomal storage disease
mucopolysaccharidosis type II
skeletal-muscle system
Country: EUA
Editor: Lippincott Williams & Wilkins
Rights: fechado
Identifier DOI: 10.1097/BPB.0b013e3283317b7a
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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