Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management
墨西哥先天性中间代谢缺陷患者全外显子组测序(WES)获得的生化诊断与分子诊断的一致性:对治疗管理的实用性
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms252111722
Vela-Amieva, Marcela; Alcántara-Ortigoza, Miguel Angel; González-Del Angel, Ariadna; Fernández-Hernández, Liliana; Reyna-Fabián, Miriam Erandi; Estandía-Ortega, Bernardette; Guillén-López, Sara; López-Mejía, Lizbeth; Belmont-Martínez, Leticia; Carrillo-Nieto, Rosa Itzel; Ibarra-González, Isabel; Ryu, Seung-Woo; Lee, Hane; Fernández-Lainez, Cynthia