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Article

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.

American journal of medical genetics. Part A - 1 Feb 2012

Jurecka Agnieszka, Krumina Zita, Żuber Zbigniew, Różdżyńska-Świątkowska Agnieszka, Kłoska Anna, Czartoryska Barbara, Tylki-Szymańska Anna

Abstract excerpt

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase (IDS). Two affected girls with moderate and severe forms of MPS II with normal karyotypes and increased urinary dermatan sulphate and heparin sulphate excretion and marked deficiencies of IDS activity are reported. Molecular studies showed that case 1 has a heterozygous...

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Identifiers

PMID: 22246721
DOI: 10.1002/ajmg.a.34415

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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