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Article

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

BMC medical genetics - 24 May 2020

Chkioua L, Grissa O, Leban N, Gribaa M, Boudabous H, Turkia H Ben, Ferchichi S, Tebib N, Laradi S

Abstract excerpt

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 MPS II or Hunter syndrome was performed based on the following approach after a clinical and paraclinical suspicion. Two...

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Identifiers

PMID: 32448126
DOI: 10.1186/s12881-020-01051-9
PMCID: PMC7247178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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