Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
Articles > Article · 2018
Authors: Ebru CANDA, Melis Kose, Havva YAZICI, Esra Er, Cenk ERASLAN, Sema KALKAN UÇAR, Sara HABİF, Emin KARACA, HÜSEYİN ONAY, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, Journal Indexed in SCI Expanded, International, 2018, vol 5, pp 39-43
DOI: 10.4274/jpr.59454
Summary
Aim: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.