中国伤残医学Issue(13)：33-34,2.DOI:10.13214/j.cnki.cjotadm.2014.13.022
新生儿遗传代谢病的筛查及分析
Using Tandem Mass Spectrometry Screening Newborns Disease types and Positive Rate of Genetic Metabolic Disease
陈永红1
作者信息
- 1. 河南省信阳市中心医院检验科，河南 信阳 464000
- 折叠
摘要
Abstract
Objective:Using tandem mass spectrometry screening newborns disease types and positive rate of genetic metabolic dis -ease, provide important basis for treatment and to intervene .Methods:in our hospital was born in 2010-2013 , 11258 cases of newborn , detection of blood and urine and acyl amino acids carnitine analysis .Detection Results:7 cases, children with inherited metabolic disease were 0.63 ‰, Conclusion:the application of tandem mass spectrometry screening , early diagnosis of neonatal hereditary metabolic dis-ease, to reduce the disability rate and mortality of newborns is of great significance .关键词
新生儿遗传代谢疾病/串联质谱法/筛查Key words
Newborn genetic metabolic diseases/Tandem mass spectrometry/Screening分类
医药卫生引用本文复制引用
陈永红..新生儿遗传代谢病的筛查及分析[J].中国伤残医学,2014,(13):33-34,2.
