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Mucopolysaccharidosis type II in Tunisian families: IDS gene Variations Disrupting Substrate Binding and A Novel deep Intronic Deletion Reducing IDS expression

2026-01-19

Abstract excerpt

<title>Abstract</title> <p> <bold>Abstract:</bold> Hunter syndrome is an X linked recessive lysosomal storage disease. This syndrome is caused by the deficiency of iduronate-2-sulfatase enzyme (IDS, EC3.1.6.13) that is involved in the degradation of macromolecules glycosaminoglycans, dermatan sulfate and heparan sulfate. <bold>Materials and Methods:</bold> This study involved three MPS II patients (WB, HMR, a...

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Literature Corpus work: 39c77419-4aa4-55f8-9de2-7eeaa64b10af
DOI: 10.21203/rs.3.rs-8540917/v1

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