Jose E. Abdenur

Feasibility of newborn screening for pyridoxine-dependent epilepsy

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

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency