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Article

Mucopolysaccharidosis type II in females: case report and review of literature.

Pediatric neurology - 1 Apr 2005

Tuschl Karin, Gal Andreas, Paschke Eduard, Kircher Susanne, Bodamer Olaf A

Abstract excerpt

Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females...

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Identifiers

PMID: 15797184
DOI: 10.1016/j.pediatrneurol.2004.10.009

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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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