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Wempe MF
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Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
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