Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
二氢硫辛酰胺脱氢酶缺乏症(DLDD)肝型:52例患者的表型谱、实验室检查结果和治疗方法
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70035
Hammann, Nicole; 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; Sturm, Ekkehard; Mayr, Johannes A; Wagner, Matias; Kölker, Stefan; Prokisch, Holger; Hoffmann, Georg F; Lenz, Dominic