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...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation
2018-03-01
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| Rangatū: | Journal of Pediatric Research |
| Ngā marau: | |
| Urunga tuihono: |
http://jpedres.org/archives/archive-detail/article-preview/clinical-biochemical-and-molecular-characteristics/18767
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| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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