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Late onset form of mucopolysaccharidosis type I: Clinical aspect and biochemical characterization of residual α-l-iduronidase activity

✍ Scribed by K. Ullrich; H. Gröbe; K. von Figura; J. J. Hopwood; V. Muller


Book ID
105519314
Publisher
Springer
Year
1981
Tongue
English
Weight
187 KB
Volume
4
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

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