| 韶关市串联质谱技术选择性筛查遗传代谢病高危患儿287例初步分析 |
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| 引用本文： | 陈亚军,杨学煌,曾宪琪,方莎.韶关市串联质谱技术选择性筛查遗传代谢病高危患儿287例初步分析[J].中国初级卫生保健,2013(11):41-42. |
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| 作者姓名： | 陈亚军 杨学煌 曾宪琪 方莎 |
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| 作者单位： | 韶关市妇幼保健院广东韶关512026 |
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| 摘 要： | 目的 应用串联质谱（tandem mass spectrometry,MS/MS）技术进行遗传代谢病（IEM）高危儿筛查,初步了解韶关市IEM的发病种类和阳性率,为其有效防治提供科学依据.方法 利用MS/MS技术对在广东省韶关市妇幼保健院新生儿科、儿童康复科就医的287例可疑患儿的血液样本进行IEM筛查.结果 发现IEM阳性患儿83例,阳性率为28.92％,其中氨基酸代谢病24例,有机酸血症11例,脂肪酸氧化缺陷疾病48例.结论 MS/MS技术是筛查诊断IEM的可靠方法.
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| 关 键 词： | 遗传代谢病 串联质谱法 儿童 |
Selective Screening of in Born Errors of Metabolism for Pilot Study of 287 Children at High Risk by Using the Tandem Mass Spec-trometry in Shaoguan |
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| Institution: | CHEN Ya-jun, YANG Xue-huang, ZENG Xian-qi, et al Women and Children＇s Health Hospital of Shaoguan, Shaoguan, Guangdong, 512026, China |
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| Abstract: | OBJECTIVE To study the application of tandem mass spectrometry（MS/MS） m the selective screening ol reborn errors oI metabolism（IEM） in high risk children, to understand the positive rate and types of IEM in Shaoguan and provide scientific basis for effective prevention. METHODS MS/MS was used to examine 287 blood samples from high risk cases of IEM who came from Women and Children＇s Health Hospital in Shaoguan of Guang dang. RESULTS Eight-three children（28.92%） were confirmed with IEM by the MS/MS, including 24 cases of aminoacid metabolism in disease, 11 cases of organic acid and 48 cases of fatty acid oxidation efficiency. CONCLUSIONS MS/MS can be used as reliable method to screen and classify IEM. |
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| Keywords: | inborn errors of metabolism tandem mass spectrometry child |
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