Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.55, no.3, pp.290-298, 2020 (ESCI, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 55 Issue: 3
- Publication Date: 2020
- Doi Number: 10.14744/turkpediatriars.2019.06926
- Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
- Page Numbers: pp.290-298
- Keywords: Brain magnetic resonance imaging, L2HGDH, L-2-hydroxyglutaric aciduria, subcortical white matter, GENE
- Istanbul University Affiliated: Yes
Abstract
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.