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

• मुख्य लेखकों: Ebru Canda (लेखक), Melis Köse (लेखक), Havva Yazıcı (लेखक), Esra Er (लेखक), Cenk Eraslan (लेखक), Ferda Özkınay (लेखक), Mahmut Çoker (लेखक), Sema Kalkan Uçar (लेखक), Sara Habif (लेखक), Emin Karaca (लेखक), Hüseyin Onay (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...