Michael F. Wempe

Feasibility of newborn screening for pyridoxine-dependent epilepsy

This paper demonstarted newborn screening for PDE-ALDH7A1 using a widely avaialble screening approach

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

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