Up a level |
Crowther, Lisa M; Poms, Martin; Zandl-Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara (2023). Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: relevance to pyridoxine-dependent epilepsy. Journal of inherited metabolic disease, 46(1), pp. 129-142. Wiley 10.1002/jimd.12569