Mucopolysaccharidosis type II: skeletal-muscle system involvement

dc.creatorMorini, SR
dc.creatorSteiner, CE
dc.creatorGerson, LBP
dc.date2010
dc.dateJUL
dc.date2014-08-01T18:41:11Z
dc.date2015-11-26T17:57:43Z
dc.date2014-08-01T18:41:11Z
dc.date2015-11-26T17:57:43Z
dc.date.accessioned2018-03-29T00:41:17Z
dc.date.available2018-03-29T00:41:17Z
dc.identifierJournal Of Pediatric Orthopaedics-part B. Lippincott Williams & Wilkins, v. 19, n. 4, n. 313, n. 317, 2010.
dc.identifier1060-152X
dc.identifierWOS:000279151000007
dc.identifier10.1097/BPB.0b013e3283317b7a
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/82127
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/82127
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1291558
dc.descriptionMucopolysaccharidosis 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.
dc.description19
dc.description4
dc.description313
dc.description317
dc.languageen
dc.publisherLippincott Williams & Wilkins
dc.publisherPhiladelphia
dc.publisherEUA
dc.relationJournal Of Pediatric Orthopaedics-part B
dc.relationJ. Pediatr. Orthop.-Part B
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectHunter syndrome
dc.subjectiduronate-2-sulphatase
dc.subjectlysosomal storage disease
dc.subjectmucopolysaccharidosis type II
dc.subjectskeletal-muscle system
dc.subjectCarpal-tunnel-syndrome
dc.subjectHunters-syndrome
dc.subjectTherapy
dc.subjectDisease
dc.subjectNeck
dc.subjectGene
dc.subjectForm
dc.titleMucopolysaccharidosis type II: skeletal-muscle system involvement
dc.typeArtículos de revistas


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