Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. If untreated, patients with the severe phenotype die within the first decade of life. Early diagnosis...
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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
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TN_cdi_doaj_primary_oai_doaj_org_article_2b5b1cd767f54850a959135cf7367b3d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2b5b1cd767f54850a959135cf7367b3d
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ISSN
2073-4409
E-ISSN
2073-4409
DOI
10.3390/cells9081838
