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

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...

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Autors principals: Chkioua, Latifa, Khedhiri, Souhir, Ben Turkia, Hadhami, Chahed, Henda, Ferchichi, Salima, Ben Dridi, Marie Françoise, Laradi, Sandrine, Miled, Abdelhedi
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3261812/
https://ncbi.nlm.nih.gov/pubmed/22074387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-6-113
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