Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
Makaleler > Tam Makale · 2018
Yazarlar: 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, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 5, ss 39-43
DOI: 10.4274/jpr.59454
Özet
Aim: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.