Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
新生儿长链 3-酮脂酰辅酶 A 硫解酶缺乏症：临床生化表型、D、L-3-羟基丁酸钠治疗经验及斑点超声心动图心脏评估
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.8
doi:10.1016/j.ymgmr.2022.100873
Annemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M J van Wegberg, Marleen C D G Huigen, Leo A J Kluijtmans, Ronald J A Wanders, Terry G J Derks, Lonneke de Boer, Riekelt H Houtkooper, Ma
