Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome

The lysosomal enzyme alpha-L-iduronidase hydrolyzes terminal iduronic acid from heparan sulfate and dermatan sulfate, and is an essential step in GAG degradation. Mutations of its gene, IDUA, yield a spectrum of mucopolysaccharidosis (MPS) type I clinical disorders. The IDUA mutation, c.712T>A (p...

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Hlavní autoři: Ahmed, Alia, Whitley, Chester B., Cooksley, Renee, Rudser, Kyle, Cagle, Stephanie, Ali, Nadia, Delaney, Kathleen, Yund, Brianna, Shapiro, Elsa
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3939822/
https://ncbi.nlm.nih.gov/pubmed/24368159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.11.014
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