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Article

Mucopolysaccharidosis type II: an update on mutation spectrum.

Acta paediatrica (Oslo, Norway : 1992) - 1 Apr 2007

Froissart Roseline, Da Silva Isabel Moreira, Maire Irène

Abstract excerpt

UNLABELLED: Mucopolysaccharidosis type II (MPS II; Hunter disease) is caused by deficiency of the enzyme iduronate-2-sulphatase (IDS) and patients present with a wide range of clinical signs and symptoms. The level of activity of IDS, however, does not allow prediction of phenotype. In our study of unrelated individuals with MPS II, alterations in the IDS gene could be identified in all 155 patients....

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Source

Identifiers

PMID: 17391447
DOI: 10.1111/j.1651-2227.2007.00213.x

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mucopolysaccharidosis type II: an update on mutation spectrum.PMID 17391447Read ↗

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A molecular genetics view on Mucopolysaccharidosis Type II.Semantic proximity Read ↗

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.Semantic proximity Read ↗

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.Semantic proximity Read ↗

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.Semantic proximity Read ↗

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)Semantic proximity Read ↗

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