Keith Hyland

6-Hydroxy-Pipecolate

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Michael F. Wempe

• May 1, 2019 • 1 min read

2-Aminoadipic Acid

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Curtis R. Coughlin

• Mar 1, 2019 • 1 min read

Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report

Curtis R. Coughlin

• Jan 1, 2013 • 1 min read