Associated Papers
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Scharer G et al.
Journal of Inherited Metabolic Disease, 2010
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Kanno J et al.
Molecular Genetics and Metabolism, 2007
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B et al.
Human Mutation, 2007
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