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Article

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

American journal of medical genetics. Part A - 1 May 2009

Vazna Alzbeta, Beesley Clare, Berna Linda, Stolnaja Larisa, Myskova Helena, Bouckova Michaela, Vlaskova Hana, Poupetova Helena, Zeman Jiri, Magner Martin, Hlavata Anna, Winchester Bryan, Hrebicek Martin, Dvorakova Lenka

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). Of the 21 Czech and Slovak patients who have been diagnosed with MPS I in the last 30 years, 16 have a severe clinical presentation (Hurler syndrome), 2 less severe manifestations (Scheie syndrome), and 3 an intermediate severity (Hurler/Scheie...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19396826
DOI: 10.1002/ajmg.a.32812
PMCID: PMC3526155

Genes

IDUA

Variants

Provenance

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.

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