Pyridoxine-dependent epilepsy: Diagnosis, new therapies, and potential newborn screening

Oct 24, 2024·
Curtis Coughlin II
Curtis Coughlin II
· 0 min read
Punta del Este, Uruguay
Abstract
At this interanational meeting, the lecture disucssed studies focused on improved clinical outcomes in patients staring lysine reduction therapy early in life and the potential for newborn screening.
Date
Oct 24, 2024
Event
XIII Congress of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening.
PDE-ALDH7A1
Curtis Coughlin II
Authors
Curtis Coughlin II
Associate Professor
Translational researcher focused on rare diseases and bioethics