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Article

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

Human mutation - 1 Jan 1992

Scott H S, Litjens T, Hopwood J J, Morris C P

Abstract excerpt

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MPS-I store these partially degraded glycosaminoglycans in their lysosomes. MPS-I patients have a wide range of clinical presentations, that makes it...

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Identifiers

PMID: 1301196
DOI: 10.1002/humu.1380010204

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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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