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气相色谱-质谱联用分析在遗传代谢病筛查和诊断中的应用 被引量:14

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出处 《中国医刊》 CAS 2006年第2期34-35,共2页 Chinese Journal of Medicine
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参考文献18

  • 1Iraj Rezvani,David S.Rosenblatt.Valine,Leucine,Isoleucine,and related organic acidemias.Nelson Textbook of Pediatrics[M].16th edition.Philadelphia:WB Saunders Company,2000.354-362.
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  • 8杨艳玲,孙芳,钱宁,宋金青,王爽,常杏芝,杨宏云,王淑琴,李龙,张月华,包新华,李明,戚豫,秦炯,吴希如.尿素循环障碍的临床和实验室筛查研究[J].中华儿科杂志,2005,43(5):331-334. 被引量:36
  • 9杨艳玲,木村正彦,袁云,钱宁,刘雪琴,张月华,包新华,吴晔,孙芳,宋金青,長谷川有紀,山口清次,重松陽介,秦炯,吴希如.戊二酸尿症Ⅱ型所致脂肪沉积性肌肉病的诊断与治疗分析[J].中华神经科杂志,2004,37(5):438-441. 被引量:32
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二级参考文献66

  • 1顾学范,韩连书,高晓岚,杨艳玲,叶军,邱文娟.串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404. 被引量:142
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  • 6Fu XW, Iga M, Kimura M. Simplified screening for organic acidemias using GC/MS and dried urine filter paper: a study on neonatal mass screening. Early Human Development, 2000, 58:41-55.
  • 7Chace DH, DiPema JC, Mitchell BL, et al. Electmspray tandem mass spectrometry for analysis of acylcamitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem, 2001,47:1166-1182.
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