Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report
由ETHE1基因双等位基因截断变异引起的乙基丙二酸脑病：病例报告
期刊:SAGE Open Medical Case Reports
影响因子:0.6
doi:10.1177/2050313X251412221
Ruiz-Martinez, Delmer-Alejandro; Vega-Peniche, Emilio-Rodrigo; Quiñonez-Pacheco, Yazmin; Laviada-Molina, Hugo; Medina-Campos, Carlos-Alejandro; Campos-Garcia, Felix-Julian
