Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy
天冬酰胺合成酶缺乏会导致先天性小头畸形和进行性脑病。
期刊:Neuron
影响因子:15
doi:10.1016/j.neuron.2013.08.013
Ruzzo, Elizabeth K; Capo-Chichi, José-Mario; Ben-Zeev, Bruria; Chitayat, David; Mao, Hanqian; Pappas, Andrea L; Hitomi, Yuki; Lu, Yi-Fan; Yao, Xiaodi; Hamdan, Fadi F; Pelak, Kimberly; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Oz-Levi, Danit; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Anikster, Yair; Ben-Asher, Edna; Olender, Tsviya; Colleaux, Laurence; Décarie, Jean-Claude; Blaser, Susan; Banwell, Brenda; Joshi, Rasesh B; He, Xiao-Ping; Patry, Lysanne; Silver, Rachel J; Dobrzeniecka, Sylvia; Islam, Mohammad S; Hasnat, Abul; Samuels, Mark E; Aryal, Dipendra K; Rodriguiz, Ramona M; Jiang, Yong-Hui; Wetsel, William C; McNamara, James O; Rouleau, Guy A; Silver, Debra L; Lancet, Doron; Pras, Elon; Mitchell, Grant A; Michaud, Jacques L; Goldstein, David B