Hepatic form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients - Hammann, Nicole Irene; Staufner, Christian; Schlieben, Lea Dewi; Dezsőfi-Gottl, Antal; Feichtinger, René G.; Häberle, Johannes; Junge, Norman; Konstantopoulou, Vassiliki; Kopajtich, Robert; McLin, Valérie; Rymen, Daisy; Slavetinsky, Christoph; et al. (Journal of inherited metabolic disease, 2025)
Zuerst veröffentlicht: 19. Mai 2025