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...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Book |
| Published: |
Galenos Yayinevi,
2018-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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