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Article

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

Journal of molecular biology - 30 Apr 2004

Hein Leanne K, Bawden Michael, Muller Vivienne J, Sillence David, Hopwood John J, Brooks Doug A

Abstract excerpt

alpha-L-Iduronidase is a glycosyl hydrolase involved in the sequential degradation of the glycosaminoglycans heparan sulphate and dermatan sulphate. A deficiency in alpha-L-iduronidase results in the lysosomal accumulation and urinary secretion of partially degraded glycosaminoglycans and is the cause of the lysosomal storage disorder mucopolysaccharidosis type I (MPS I; Hurler and Scheie syndromes; McKusick...

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Identifiers

PMID: 15081804
DOI: 10.1016/j.jmb.2004.03.012

Genes

IDUA

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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.

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alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.PMID 15081804Read ↗

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