Newborn screening for pyridoxine-dependent epilepsy
Dr. Coughlin discusses newborn screening and PDE-ALDH7A1.
Pyridoxine Dependent Epilepsy (PDE): Overview, New Treatments, and the potential for Newborn Screening
This lecture highlights therapeutic advances for this rare but treatable disorder
The time has come for newborn screening for pyridoxine-dependent epilepsy
his lecture will focus on the impact of neonatal treatment and developmental outcomes and new biomarkers for PDE-ALDH7A1.
Pridoxine-dependent epilepsy: Towards newborn screening
This lecture will focus on NBS for PDE and the current criteria for NBS.
PDE is a treatable disorder of lysine metabolism
This webinair will focus on lysine reduction therapies for PDE-ALDH7A1. The lecture is available to all GMDI members.
Pyridoxine-dependent epilepsy
Dr. Coughlin joins members of the PDE Consoritum to discuss PDE-ALDH7A1.