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Article

Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

Molecular genetics and metabolism - 1 Oct 1998

Voskoboeva E Y, Krasnopolskaya X D, Mirenburg T V, Weber B, Hopwood J J

Abstract excerpt

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of the lysosomal protein alpha-l-iduronidase (IDUA). Patients present within a broad spectrum of phenotypes from severe (Hurler syndrome) to clinically less severe (Scheie syndrome). Since 1982 a special program for the diagnosis and prevention of lysosomal storage diseases has operated in the...

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Identifiers

PMID: 9787109
DOI: 10.1006/mgme.1998.2745

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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