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

• Main Authors: Chahed Henda (Author), Froissart Roseline (Author), Tcheng Rémy (Author), Turkia Hadhami (Author), Khedhiri Souhir (Author), Chkioua Latifa (Author), Ferchichi Salima (Author), Ben Dridi Marie (Author), Vianey-Saban Christine (Author), Laradi Sandrine (Author), Miled Abdelhedi (Author)
• Format: Book
• Published: BMC, 2011-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...