Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, b...

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出版年:	Journal of Pediatric Research
主要な著者:	Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
フォーマット:	論文
言語:	英語
出版事項:	Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
主題:	Mucopolysaccharidosis Type II Hunter syndrome lysosomal storage disease Turkey
オンライン･アクセス:	http://jpedres.org/archives/archive-detail/article-preview/clinical-biochemical-and-molecular-characteristics/18767