Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria


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Canda E., Kose M., Yazici H., Er E., Eraslan C. , Ucar S. K. , ...More

JOURNAL OF PEDIATRIC RESEARCH, vol.5, no.1, pp.39-43, 2018 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.4274/jpr.59454
  • Title of Journal : JOURNAL OF PEDIATRIC RESEARCH
  • Page Numbers: pp.39-43

Abstract

Aim: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.