The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Abstract 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...
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2020-05-01T00:00:00Z.
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