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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
King Faisal Specialist Hospital and Research Centre
2014
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Materias: | |
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 |