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  1. Article

    Open Access

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

    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 accu...

    L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia… in BMC Medical Genetics (2020)

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    Article

    Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families

    Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has severe and milder phenotypic subtypes. The IDUA muta...

    S. Laradi, T. Tukel, M. Erazo, J. Shabbeer… in Journal of Inherited Metabolic Disease (2005)