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

✍ Scribed by Latifa Chkioua; Souhir Khedhiri; Hadhami Ben Turkia; Rémy Tcheng; Roseline Froissart; Henda Chahed; Salima Ferchichi; Marie Françoise Ben Dridi; Christine Vianey-Saban; Sandrine Laradi; Abdelhedi Miled

Book ID
115022921
Publisher
BioMed Central
Year
2011
Tongue
English
Weight
357 KB
Volume
6
Category
Article
ISSN
1746-1596

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Identification and molecular characteriz
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
✍ G. Yogalingam; X.-H. Guo; V.J. Muller; D.A. Brooks; P.R. Clements; E.D. Kakkis; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase (IDUA). Mutations in the gene are responsible for the enzyme deficiency, which leads to the intralysosomal storage of the partially degraded glycosaminoglycans derm

Molecular analysis of 30 mucopolysacchar
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations
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Mucopolysaccharidosis type I (MPS-I orMPS1) is an autosomal recessive condition characterized by a broad range of clinical symptoms. Molecular diagnosis of MPS-I is important for analyzing genotype-phenotype correlation and for selecting patients for innovative therapies. In this study we analyzed 3