Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
琥珀酸半醛脱氢酶缺乏症诊断和治疗共识指南
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.108363
Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L; Elsea, Sarah H; García-Cazorla, Àngels; Gibson, K Michael; Gropman, Andrea L; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H C; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A; Roullet, Jean-Baptiste; Pearl, Phillip L