Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HG...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2018-03-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/clinical-neuroimaging-and-genetic-features-of-the-/18769
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