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

• Main Authors: Ebru Canda (Author), Melis Köse (Author), Havva Yazıcı (Author), Esra Er (Author), Cenk Eraslan (Author), Ferda Özkınay (Author), Mahmut Çoker (Author), Sema Kalkan Uçar (Author), Sara Habif (Author), Emin Karaca (Author), Hüseyin Onay (Author)
• Format: Book
• Published: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...