Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

ABSTRACT: BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes....

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Autori principali: Chkioua, Latifa, Khedhiri, Souhir, Turkia, Hadhami Ben, Tcheng, Rémy, Froissart, Roseline, Chahed, Henda, Ferchichi, Salima, Ben Dridi, Marie Françoise, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2011
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135498/
https://ncbi.nlm.nih.gov/pubmed/21639919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-6-47
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