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

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 fo...

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Detalles Bibliográficos
Autores principales: Zübarioğlu, Tanyel, Yalçınkaya, Cengiz, Oruç, Çiğdem, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Gezdirici, Alper, Yeşil, Gözde, Enver, Ece Öge, Zeybek, Çiğdem Aktuğlu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2020
Materias:
Original Article / Özgün Araştırma
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536460/
https://www.ncbi.nlm.nih.gov/pubmed/33061758
http://dx.doi.org/10.14744/TurkPediatriArs.2019.06926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536460/
https://www.ncbi.nlm.nih.gov/pubmed/33061758
http://dx.doi.org/10.14744/TurkPediatriArs.2019.06926

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