Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements
GOT2 缺乏症的全面基因型、表型和生化特征分析：一种伴有癫痫和异常运动的进行性神经发育障碍
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101587
German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türkdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith J M; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza
