DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings
DNAJC12 缺陷：两名兄弟姐妹出现轻度高苯丙氨酸血症和神经功能障碍
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2023.101008
Fino, Edoardo; Barbato, Alessandro; Scaturro, Giusi M; Procopio, Elena; Balestrini, Simona
