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Article

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.

Diagnostic pathology - 10 Nov 2011

Chkioua Latifa, Khedhiri Souhir, Ben Turkia Hadhami, Chahed Henda, Ferchichi Salima, Ben Dridi Marie Françoise, Laradi Sandrine, Miled Abdelhedi

Abstract excerpt

UNLABELLED: Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also...

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Identifiers

PMID: 22074387
DOI: 10.1186/1746-1596-6-113
PMCID: PMC3261812

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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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