换一批
换一批Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.
第一作者：
Ali Reza,Tavasoli
第一单位：
Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
作者：
主题词
脑(Brain);儿童, 学龄前(Child, Preschool);发育障碍(Developmental Disabilities);烯酰CoA水合酶(Enoyl-CoA Hydratase);人类(Humans);男(雄)性(Male);代谢缺陷, 先天性(Metabolism, Inborn Errors);突变(Mutation);RNA结合蛋白质类(RNA-Binding Proteins)
DOI
10.1016/j.braindev.2017.04.007
PMID
28438368
发布时间
2018-04-18
- 浏览38
Brain & development
714-716页
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