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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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