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...

Source: BMC Medical Genetics - May 24, 2020 Category: Genetics & Stem Cells Authors: L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib and S Laradi Tags: Research article Source Type: research