The cost of a delayed diagnosis: Prioritizing neonatal treatment for PDE
This lecture will focus on current and future treatments for PDE-ALDH7A1
Glycine encephalopathies
History and nosology of glycine encephalopathy
Nicole's Research In Progress
Nicole García Tubéns presents her rotation project
Kristie wins the Shapira Award!
Kristie is named the recipient of the 2025 Emmanual Shapira award for her work on newborn screening for PDE-ALDH7A1
PDE-ALDH7A1 consensus guidelines and current advances in treatment
PDE-ALDH7A1 confernece at Oslo Univeristy Hospital
When everyday counts: Neonatal treatment for pyridoxine-dependent epilepsy.
Dr. Coughlin discusses current treatment of PDE-ALDH7A1
HMGGP Annual Retreat
Nicole presents her recent work from the Coughlin Lab
CurePDE 2026 Family Retreat
The second annual retreat with an oppritunity to connect, learn and build community.
Pyridoxine-Dependent Epilepsy
Ensuring every patient is diagnosed and treated at birth. Focused on improving clinical outcomes today and treatment advances for tomorrow.
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