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...
| Published in: | Journal of Pediatric Research |
|---|---|
| Main Authors: | Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker |
| Format: | Article |
| Language: | English |
| Published: |
Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation
2018-03-01
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| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/clinical-biochemical-and-molecular-characteristics/18767
|
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