Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

ZÜBARİOĞLU T., YALÇINKAYA C., Oruc C., KIYKIM E., CANSEVER M. Ş., Gezdirici A., ...Daha Fazla

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.55, sa.3, ss.290-298, 2020 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.14744/turkpediatriars.2019.06926
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.290-298
  • Anahtar Kelimeler: Brain magnetic resonance imaging, L2HGDH, L-2-hydroxyglutaric aciduria, subcortical white matter, GENE
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.