HIGHLIGHTS
- who: Hans-Otto Bu00f6hm et al. from the Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien , have published the Article: Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency, in the Journal: (JOURNAL) of 11/Nov/2022
- what: The aim of this study was to understand the underlying mechanisms in PDE-ALDH7A1 and to discover new biomarkers in the plasma of patients using Plasma samples from 9 patients with genetically confirmed PDE-ALDH7A1 and 22 carefully selected control individuals were analyzed by ultra high performance liquid chromatography-high-resolution . . .
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