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

• Glavni autori: Chahed Henda (Autor), Froissart Roseline (Autor), Tcheng Rémy (Autor), Turkia Hadhami (Autor), Khedhiri Souhir (Autor), Chkioua Latifa (Autor), Ferchichi Salima (Autor), Ben Dridi Marie (Autor), Vianey-Saban Christine (Autor), Laradi Sandrine (Autor), Miled Abdelhedi (Autor)
• Format: Knjiga
• Izdano: BMC, 2011-06-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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...