Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. [electronic resource]
- Annals of Saudi medicine
- 107-14 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0975-4466
10.5144/0256-4947.2014.107 doi
Adolescent Adult Alcohol Oxidoreductases--genetics Arabs--genetics Brain Diseases, Metabolic, Inborn--complications Brain Neoplasms--etiology Child Consanguinity Cross-Sectional Studies Family Female Frameshift Mutation Genetic Testing Humans Magnetic Resonance Imaging--methods Male Mutation, Missense Neuroimaging--methods Pedigree Phenotype Young Adult