Pyridoxine-dependent epilepsy: Towards newborn screening

Image credit: UMD.nl

Abstract

This lecture will focus on NBS for PDE. Drs. Laura Tseng and Curtis Coughlin will review data from the PDE Consortium and discuss how PDE meets the current criteria for NBS. The symposium features a historical, current, and future look at newborn screening.

Date
Jan 27, 2022 12:45 PM
Location
Amsterdam, Netherlands
Curtis R. Coughlin II
Curtis R. Coughlin II
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.

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