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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
BACKGROUND: Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697996/ https://www.ncbi.nlm.nih.gov/pubmed/23800320 http://dx.doi.org/10.1186/1750-1172-8-92 |