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Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy

✍ Scribed by Vanessa Gonçalves Pereira; Ana Maria Martins; Cecília Micheletti; Vânia D'Almeida


Book ID
116347735
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
144 KB
Volume
387
Category
Article
ISSN
0009-8981

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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