Browsing Institutt for nevromedisin og bevegelsesvitenskap by Author "Yazdani, Mazyar"
Now showing items 1-1 of 1
-
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 ...