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Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families

✍ Scribed by S. Laradi; T. Tukel; M. Erazo; J. Shabbeer; L. Chkioua; S. Khedhiri; S. Ferchichi; M. Chaabouni; A. Miled; R. J. Desnick


Book ID
106373903
Publisher
Springer
Year
2005
Tongue
English
Weight
122 KB
Volume
28
Category
Article
ISSN
0141-8955

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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