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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Galenos Yayinevi
2018-03-01
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Series: | Journal of Pediatric Research |
Subjects: | |
Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/clinical-biochemical-and-molecular-characteristics/18767
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