• Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency 

      Böhm, Hans-Otto; Yazdani, Mazyar; Mørk Sandås, Elise; Østeby Vassli, Anja; Kristensen, Erle; Rootwelt, Helge; Skogvold, Hanne Bendiksen; Brodtkorb, Eylert; Elgstøen, Katja B. Prestø (Peer reviewed; Journal article, 2022)
      Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and ...