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1例以猝死为表现的极长链酰基辅酶A脱氢酶缺乏症报告 被引量：1

A Case Report of Very Long Chain Acyl CoA Dehydrogenase Deficiency With Sudden Death
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摘要 为深入学习新生儿早发型极长链酰基辅酶A脱氢酶缺乏症(VLCADD)的临床特征,为患儿早期得到诊断、干预赢得宝贵的时间,特对本辖区医疗机构1例早发型VLCADD的临床表现、抢救、诊断过程进行总结分析。 To deeply study clinical features of neonatal very long chain acyl CoA dehydrogenase deficiency(VLCADD)and gain valuable time for early diagnosis and intervention,the paper summarized and analyzed clinical manifestations,rescue and diagnosis process of one case of early-onset VLCADD in a medical institution of our district.
作者 杜亚婷 周婷 DU Ya-ting;ZHOU Ting(Beijing Changping Maternal and Child Health Hospital,Beijing,102200;Changping District Hospital,Beijing,102200)
机构地区 北京市昌平区妇幼保健院 北京市昌平区医院
出处 《智慧健康》 2021年第12期88-90,99,共4页 Smart Healthcare
关键词 极长链酰基辅酶A脱氢酶 遗传 代谢 ACADVL基因 新生儿 Very long chain acyl CoA dehydrogenase Heredity Metabolism ACADVL gene Neonates
分类号 R725.9 [医药卫生—儿科]
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智慧健康
2021年 第12期

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