Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
对12例接受三庚酸甘油酯治疗的丙酮酸羧化酶缺乏症患者进行临床、生化和分子特征分析
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2023.107605
Lasio, M Laura Duque; Leshinski, Angela C; Ducich, Nicole H; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B; Hainline, Bryan E; Basinger, Alice A; Wilson, William G; Diaz, George A; Erbe, Richard W; Koeberl, Dwight D; Vockley, Jerry; Bedoyan, Jirair K
