| 遗传性代谢缺陷病(IEM)的化学检测 |
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| 引用本文： | 赵基源,王义明,罗国安.遗传性代谢缺陷病(IEM)的化学检测[J].福建农林大学学报(哲学社会科学版),2003(1). |
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| 作者姓名： | 赵基源 王义明 罗国安 |
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| 作者单位： | 清华大学生命科学与工程研究院，清华大学生命科学与工程研究院，清华大学生命科学与工程研究院 北京 100084，北京 100084，北京 100084 |
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| 基金项目： | “973”国家重点基础研究发展规划项目——中国人口出生缺陷的遗传与环境可控性研究(项目编号2001CB510306)资助 |
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| 摘 要： | 本文介绍了遗传性代谢缺陷病(Inborn errors of metabolism IEM)的发病机理及其特点 并阐述了在早期对它进行检测的必要性。文章简要回顾了对IEM进行检测尤其是化学检测的发展历程。着重介绍了目前世界各国采用较多检测IEM的气相色谱-质谱联用(GC-MS)、串联质谱(Tandem-Mass)、毛细管电泳(CE)、高效液相色谱(HPLC)、核磁共振(NMR)、红外光谱(IR)等各种化学检测方法 比较了它们的特点和优缺点。
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| 关 键 词： | 遗传性代谢缺陷病 气相色谱-质谱联用 串联质谱 有机酸 氨基酸 酶 |
Chemical Diagnosis of Inborn Errors of Metabolism |
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| Zhao Jiyuan,Wang Yiming,LuoGuoan
Institute of Life Science and Engineering,Tsinghua University,Beijing,. China.Chemical Diagnosis of Inborn Errors of Metabolism[J].Journal of Fujian Agriculture and Forestry University,2003(1). |
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| Authors: | Zhao Jiyuan Wang Yiming LuoGuoan
Institute of Life Science and Engineering Tsinghua University Beijing China |
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| Institution: | Zhao Jiyuan,Wang Yiming,LuoGuoan
Institute of Life Science and Engineering,Tsinghua University,Beijing,100084. China |
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| Abstract: | Inborn errors of metabolism (IEM) and their pathology are introduced. It is demonstrated that delayed diagnosis would do harm to neonate. Early diagnosis of IEM is a challenging and undeveloped area in China. In this review, we compare some recently used chemical diagnosis methods: gas chromatography-mass spectrometry, tandem mass spectrometry, capillary electropheresis, HPLC. NMR and IR. Their advantages and disadvantages are also discussed. |
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| Keywords: | Inborn errors of metabolism (IEM) GC-MS Tandem-Mass organic acid amino acid enzyme review |
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