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HFML-FELIX research featured in "Medisch Contact"

Date of news: 7 July 2021


Detecting pyridoxine-dependent epilepsy in newborn screening

Together with the Translational metabolic laboratory (Radboudumc) we have discovered biomarkers that can be used to detect the metabolic disease pyridoxine-dependent epilepsy (PDE) in neonatal screening (the newborn heel prick). The work, published in the Journal of Clinical Investigation, has been published as a scientific highlight in Medisch Contact.

Read more (in Dutch): https://www.medischcontact.nl/nieuws/laatste-nieuws/nieuwsartikel/pyridoxine-afhankelijke-epilepsie-opsporen-met-hielprik.htm

“Medisch Contact” is published by the Royal Dutch Medical Association (Koninklijke Nederlandsche Maatschappij tot bevordering der Geneeskunst, KNMG) - a weekly magazine for doctors and those working in and around healthcare.