Navigating Rare Disease Advocacy: The CurePDE Journey
Dr. Coughlin joins members of CurePDE to discuss PDE-ALDH7A1.
HMGGP Rotation Updates
Nicole García Tubéns presents her rotation project
Pyridoxine-dependent epilepsy: Diagnosis, new therapies, and potential newborn screening
Dr. Coughlin discussed PDE-ALDH7A1 the XIII Congress for SLEIMPN
Dietary management for pyridoxine-dependent epilepsy
Dr. Coughlin joins members of the PDE Consoritum to discuss PDE-ALDH7A1.
Natural History Studies
Computational discovery and characterization of novel materials for energy and electronics.
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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.
