Abstract
We suggest that PDE-ALDH7A1 is an ideal condition for newborn screening, and our preliminary data suggests that PDE-ALDH7A1 could be added to current newborn screening programs. Newborn screening would allow for treatment of more than just the epilepsy that previously defined this disorder.
Date
Oct 3, 2023 10:00 AM
Event
BCH Metabolism Grand Rounds Invited Speakers Series
Associate Professor
My research interests include inborn errors of metabolism that impact neurologic function with a focus on pyridoxine-dependent epilepsy, glutaric aciduria I, and vitamin B6 metabolism.