Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening
对新生儿筛查发现的2-甲基丁酰甘氨酸尿症患者中新的ACADSB基因序列突变进行表征及其临床意义
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2010.04.014
Alfardan, Jaffar; Mohsen, Al-Walid; Copeland, Sara; Ellison, Jay; Keppen-Davis, Laura; Rohrbach, Marianne; Powell, Berkley R; Gillis, Jane; Matern, Dietrich; Kant, Jeffrey; Vockley, Jerry
