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...

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Detalhes bibliográficos
Main Authors: Guillén-Navarro, Encarna, Domingo-Jiménez, María Rosario, Alcalde-Martín, Carlos, Cancho-Candela, Ramón, Couce, María Luz, Galán-Gómez, Enrique, Alonso-Luengo, Olga
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3697996/
https://ncbi.nlm.nih.gov/pubmed/23800320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-92
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