Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review
支链氨基酸转移酶2 (BCAT2) 缺乏症:病例系列及系统综述
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2026.101291
Filipic, Maja; Remec, Ziga Iztok; Torkar, Ana Drole; Sustar, Nataša; Cuk, Vanja; Rodaro, Chiara; Debeljak, Maruša; Mlinaric, Matej; Sikonja, Jaka; Silva, Vesna Bancic; Kotnik, Primoz; Battelino, Tadej; Tansek, Mojca Zerjav; Groselj, Urh; Lampret, Barbka Repic