Article
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Diagnostic pathology - 3 Jun 2011
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
Abstract excerpt
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. AIM OF STUDY: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia....
Topics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Family Health
- Female
- Genotype
- Humans
- Iduronidase
- Male
- Mucopolysaccharidosis I
- Mutation, Missense
- Tunisia