The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

BACKGROUND: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs). METHODS: A diagnosis of MPS II...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Chkioua, L, Grissa, O, Leban, N, Gribaa, M, Boudabous, H, Turkia, H Ben, Ferchichi, S, Tebib, N, Laradi, S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7247178/
https://ncbi.nlm.nih.gov/pubmed/32448126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01051-9
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