TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.55, no.3, pp.290-298, 2020 (Journal Indexed in ESCI)
Article / Article
Title of Journal :
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
Aim: L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiologic, and genotypic characteristics of patients with L-2-hydroxyglutaric aciduria who were followed in our outpatient clinic.