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A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase

INTRODUCTION: Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder, characterized primarily by skeletal dysplasia and joint contracture. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), for which a re...

詳細記述

保存先:
書誌詳細
主要な著者: El Dib, Regina P, Pastores, Gregory M
フォーマット: Artigo
言語:Inglês
出版事項: Dove Medical Press 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2763316/
https://ncbi.nlm.nih.gov/pubmed/19851471
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