Wempe MF

Latest

• 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.