Article

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

2020-03-03

Abstract excerpt

<title>Abstract</title><p><bold>Background:</bold>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).<bold>Methods:</bold>A diagnosis of MPS II or Hunter syndrome was performed based on the following approach aft...

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Literature Corpus work: d7a96887-6312-5ab8-8603-395b004b9d5a
DOI: 10.21203/rs.2.16148/v5

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