載入...

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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: El Dib, Regina P, Pastores, Gregory M
格式: Artigo
語言:Inglês
出版: Dove Medical Press 2009
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2763316/
https://ncbi.nlm.nih.gov/pubmed/19851471
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!