L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene. [electronic resource]
Producer: 20120111Description: S275-9 p. digitalISSN:- 1573-2665
- Adult
- Alcohol Oxidoreductases -- genetics
- Biomarkers -- urine
- Brain Diseases, Metabolic, Inborn -- diagnosis
- DNA Mutational Analysis
- Disease Progression
- Europe -- ethnology
- Female
- Genetic Predisposition to Disease
- Glutarates -- urine
- Humans
- Infant
- Male
- Mutation
- Pakistan -- ethnology
- Phenotype
- Predictive Value of Tests
- Saudi Arabia -- ethnology
- Severity of Illness Index
- Venezuela -- ethnology
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Publication Type: Journal Article; Multicenter Study
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