A Novel Mutation in Aspartoacylase Gene; Canavan Disease

Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported...

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發表在:Iran J Child Neurol
Main Authors: ASHRAFI, Mahmoudreza, TAVASOLI, Alireza, KATIBEH, Pegah, ARYANI, Omid, VAFAEE-SHAHI, Mohammad
格式: Artigo
語言:Inglês
出版: Shahid Beheshti University of Medical Sciences 2015
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4670978/
https://ncbi.nlm.nih.gov/pubmed/26664442
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