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
Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene
✍ Scribed by Susanna Bunge; Wim J. Kleijer; Cordula Steglich; Michael Beck; Eberhard Schwinger; Andreas Gal
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 345 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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