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Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

✍ Scribed by Oussoren, Esmee; Keulemans, Joke; van Diggelen, Otto P.; Oemardien, Linda F.; Timmermans, Remco G.; van der Ploeg, Ans T.; Ruijter, George J.G.


Book ID
123605003
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
413 KB
Volume
109
Category
Article
ISSN
1096-7192

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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