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《Life Science Instruments》 2003-01
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Chemical Diagnosis of Inborn Errors of Metabolism

Zhao Jiyuan, Wang Yiming, LuoGuoan Institute of Life Science and Engineering, Tsinghua University, Beijing, 100084. China  
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.
【Fund】: “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
【CateGory Index】: R596
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