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....

全面介紹

Na minha lista:
書目詳細資料
Main Authors: 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
格式: Artigo
語言:Inglês
出版: BioMed Central 2011
主題:
Research
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍