Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
Mucopolysaccharidosis (MPS) type II, or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Glycosaminoglycan (GAG) accumulation leads to progressive multisystemic involvement, with coarse facial features, hepatosplenomegaly, short stature, rec...
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| Asıl Yazarlar: | , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
MDPI AG
2025-08-01
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| Seri Bilgileri: | International Journal of Neonatal Screening |
| Konular: | |
| Online Erişim: | https://www.mdpi.com/2409-515X/11/3/68 |
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