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新生儿异戊酸血症3例 被引量:4

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摘要 近年来,随着串联质谱技术(tandem mass spectrometry,MS/MS)及气相色谱质谱(gas chromotography mass spectrometry,GC/MS)技术的应用,新生儿异戊酸血症(isovaleric acidemia,IVA)的诊断率明显提高。本文对我院确诊的3例新生儿IVA进行总结分析,探讨其临床特点,为早期诊断提供帮助。
出处 《中国实用儿科杂志》 CSCD 北大核心 2012年第5期399-400,共2页 Chinese Journal of Practical Pediatrics
基金 深圳市医疗重点学科(危重患儿救治中心)专项建设基金[2001B19]
关键词 异戊酸血症 新生儿 isovaleric acidemia (IVA) neonate
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参考文献2

  • 1Lund AB, Lund AM.Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine [J]. Ugeskr Laeger, 2011, 173(15) : 1121-1123.
  • 2Zand D J, Brown KM, Lichter-Konecki U, et al.Effectiveness of a clinical pathway for the emergency treatment of patients with in- born errors of metabolism [J]. Pediatrics, 2008, 122 (6) : 1191-1195.

同被引文献43

  • 1庄太凤.新生儿常见先天遗传代谢病的研究新进展[J].中华临床医师杂志(电子版),2011,5(12):3588-3590. 被引量:4
  • 2杨艳玲,宋金青,秦炯.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[J].中国医刊,2006,41(2):34-35. 被引量:14
  • 3唐建明.新生儿异戊酸血症一例[J].中华儿科杂志,2007,45(9):720-720. 被引量:8
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  • 7Grünert SC,Wendel U,Lindner M. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia[J].ORPHANET JOURNAL OF RARE DISEASES,2012.9.
  • 8Lin WD,Wang CH,Lee CC. Genetic mutation profile of isovaleric acidemia patients in Taiwan[J].Molecular Genetics and Metabolism,2007,(02):134-139.
  • 9Kaya N,Colak D,Al-Bakheet A. Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia[J].GENE,2013,(02):297-300.
  • 10Dercksen M,Duran M,Ijlst L. Clinical variability of isovaleric acidemia in a genetically homogeneous population[J].Journal of Inherited Metabolic Disease,2012,(06):1021-1029.

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