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Neurochemical Characterization of Canine α-L-Iduronidase Deficiency Disease (Model of Human Mucopolysaccharidosis I)

✍ Scribed by George Constantopoulos; Robert M. Shull; Nancy Hastings; Elizabeth F. Neufeld


Book ID
111173309
Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
802 KB
Volume
45
Category
Article
ISSN
0022-3042

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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