Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian popu...
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
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 pheno...
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Full title
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
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TN_cdi_doaj_primary_oai_doaj_org_article_035771bee3a146f1859c01b6ce4a7c6d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_035771bee3a146f1859c01b6ce4a7c6d
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ISSN
1746-1596
E-ISSN
1746-1596
DOI
10.1186/1746-1596-6-113
