Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

BACKGROUND AND OBJECTIVES: L-2-hydroxyglutaric aciduria is a neurometabolic disorder with autosomal recessive mode of inheritance in which patients exhibit elevated L-2-hydroxyglutaric acid in body fluids, central nervous system manifestations, and increased risk of brain tumor formation. Mutations...

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Detalles Bibliográficos
Autores principales: Faiyaz-Ul-Haque, Muhammad, Al-Sayed, Moeenaldeen D., Faqeih, Eissa, Jamil, Masood, Saeed, Anjum, Amoudi, Mohamed Saleh, Kaya, Namik, Abalkhail, Halah, Al-Abdullatif, Ahmed, Rashed, Mohamed, Al-Owain, Mohammed, Peltekova, Iskra, Zaidi, Syed HE
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074860/
https://www.ncbi.nlm.nih.gov/pubmed/24894778
http://dx.doi.org/10.5144/0256-4947.2014.107

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