A 3-Month-Old Boy With Progressive Weakness.
作者信息
Kim Soo Yeon, Ko Jung Min, Choi Sun Ah, Cho Anna, Lee Jin Sook, Lim Byung Chan, Kim Ki Joong, Chae Jong-Hee
机构信息
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Department of Genetics, Seoul National University College of Medicine, Seoul, Korea.
出版信息
Brain Pathol. 2018 Sep;28(5):773-774. doi: 10.1111/bpa.12651.
Abstract
摘要
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本文引用的文献
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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.先天性肌营养不良的诊断和病因：我们已经取得了阶段性成果。
Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25.
2
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.迟发性多种酰基辅酶A脱氢酶缺乏症的临床和遗传异质性
Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.
3
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.C6 - C10 - 二羧酸尿症：一名对核黄素反应性多种酰基辅酶A脱氢酶缺陷患者的研究
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