Open AccessL-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi
Author(s) -
Tanyel Zübarioğlu,
Cengiz Yalçınkaya,
Çiğdem Oruç,
Ertuğrul Kıykım,
Mehmet Şerif Cansever,
Alper Gezdirici,
Gözde Yeşil,
Ece Öge Enver,
Çiğdem Aktuğlu-Zeybek
Publication year - 2020
Publication title -
türk pediatri arşivi : i̇stanbul çocuk kliniği dergisi
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.237
H-Index - 11
ISSN - 1306-0015
DOI - 10.14744/turkpediatriars.2019.06926
Subject(s) - medicine , dentate nucleus , pediatrics , white matter , outpatient clinic , neuroimaging , gynecology , cerebellum , magnetic resonance imaging , psychiatry , radiology
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.