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新生儿多种酰基辅酶A脱氢酶缺乏症1例 被引量:4

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摘要 患儿,女,1d,因气促并口吐白沫半天余人院。患儿系第5胎第4产,患儿母亲于2004年人工流产1次;2006年平产1活女婴,生后第2天突然死亡;2008年平产1活男婴,生后4月因“病毒性脑炎”死亡;2010年8月平产1活女婴,生后第5天突然死亡,尸检报告提示先天性肝发育不全。
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2013年第12期1098-1099,共2页 Chinese Journal of Contemporary Pediatrics
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参考文献4

  • 1Sugai F, Baba K, Toyooka K, Liang W, Nishiol I, Yamadera M, et al. Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase[J]. Neuromuscul Disord, 2012, 22(2): 159-161.
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  • 3鲍梦馨,朱梅佳.多种酰基辅酶A脱氢酶缺乏症两家系临床、病理及分子遗传学研究[D].山东大学硕士学位论文,2012.
  • 4章瑞南,邱文娟,叶军,韩连书,张惠文,邱蕊,龚珠文,顾学范.多种酰基辅酶A脱氢酶缺乏症儿童与成人患者临床特点比较[J].临床儿科杂志,2012,30(5):446-449. 被引量:13

二级参考文献11

  • 1Frerman FE, Goodman SI. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts [J ], Proc Natl Acad Sci U S A, 1985,82(13):4517-4520.
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