Genetic & Genomic MedicineJournal of Clinical InvestigationPeer-reviewed
Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications
Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx…·Karlien L. M. Coene
The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.