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Article

Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jun 2002

Lee-Chen Guey-Jen, Lin Shuan-Pei, Chen I-Shen, Chang Jui-Hung, Yang Chyau-Wen, Chin Yi-Wen

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). MPS I covers a broad spectrum of clinical severity ranging from severe Hurler syndrome through intermediate Hurler/Scheie syndrome to mild Scheie syndrome. Mutation screening was performed in two unrelated Taiwanese MPS I patients. A Hurler/Scheie patient had A79V (C to T transition in codon 79) in...

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PMID: 12189649

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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