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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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| Publicado no: | Iran J Child Neurol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Shahid Beheshti University of Medical Sciences
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4670978/ https://ncbi.nlm.nih.gov/pubmed/26664442 |
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