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