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一例3-甲基巴豆酰辅酶A羧化酶缺乏症患儿的护理 被引量:1

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作者 许渝
出处 《护士进修杂志》 北大核心 2007年第20期1919-1920,共2页 Journal of Nurses Training
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  • 1Eldjarn L,Jellum E,Stokke O,et al. β-Hydroxyisovaleric aciduria and β-methylcrotonylglycinuria : a new inborn error ofmetabolism[J]. Lancet, 1970,2 : 521-522.
  • 2张星星,毛定安,罗小平,易著文,王秀英,党西强,王成.单纯型3-甲基巴豆酰辅酶A羧化酶缺乏症2例并文献复习[J].中国实用儿科杂志,2005,20(8):507-508. 被引量:7
  • 3Baumgarmer MR, Dantas MF, Suormala T, et al. Isolated 3- methylc-rotonyl-CoA carboxylase deficiency : evidence for an allele-speciflc dominant negative effect and responsiveness to biotin therapy[J]. Am J Hum Genet,2004,75(5) : 479-488.

二级参考文献9

  • 1Eldjarn L,Jellum E,Stokke O,et al.β-Hydroxyisovaleric aciduria and β- methylcrotonylglycinuria.:a new inborn error of metabolism.Lancet,1970,2:521-522.
  • 2Gibson KM,Bennett MJ,Naylor EW,et al.3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylarnitines in blood spots of their children.J Pediatr,1998,132:519-523.
  • 3Naylor EW,Chace DH.Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid,organic acid and amino acid metabolism.J Child Neurol,1999,14(Suppl 1):4-8.
  • 4Roscher AA,Liebl B,Fingerhut R,et al.Prospective study of MS-MS newborn screening in Bavaria,Germany. J Inherit Metab Dis,2000,23:4.
  • 5Wilcken B,Wiley V,Carpenter K.Two years of routine newborn screening by tandem mass spectrometry (MS-MS) in New South Wales,Australia.J Inherit Metab Dis,2000,23:4.
  • 6Elpeleg ON,Havkin S,Barash V,et al.Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.J Pediatr,1992,121(3):407-410.
  • 7Murayama K,Kimura M,Yamaguchi S,et al.Isolated 3-methylcrotonyl-CoA:carboxylase deficiency in a 15-year-old girl.Brain Development,1997,19(4):303-305.
  • 8Lehnert W,Niederhoff H,Suormala T,et al.Isolated biotin-resistant 3-methylcrotonyl-CoA:carboxylase deficiency:long-term outcome in a case with neonatal onset.Eur J Pediat,1996,155(7):568-572.
  • 9Baumgartner MR,Dantas MF,Suormala T,et al.Isolated 3- methylcrotonyl-CoA carboxylase deficiency:evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.Am J Hum Genet,2004,75(5):479-488.

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