期刊文献+

重症枫糖尿病2例 被引量:2

Two Cases Report of Severe Maple Syrup Urine Disease
下载PDF
导出
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2008年第19期1522-1522,1525,共2页 Journal of Applied Clinical Pediatrics
  • 相关文献

参考文献5

  • 1Yoon HR,Lee KR,Kang S,et al. Screening of newborns and high -risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: A three -year report[ J ]. Clin Chim Acta ,2005, 354(1 -2) :167 - 180.
  • 2韩连书,高晓岚,叶军,邱文娟,顾学范.串联质谱技术在有机酸血症筛查中的应用研究[J].中华儿科杂志,2005,43(5):325-330. 被引量:62
  • 3Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing[ J ]. Clin Biochem,2005,38 ( 4 ) : 296 - 309.
  • 4郭建峰,张芳,王风秀.枫糖尿病1例[J].临床荟萃,2007,22(17):1279-1279. 被引量:8
  • 5宋力,徐凤铎,包美珍,刘芬,孙桂香,李欣.枫糖尿病二例[J].中华医学遗传学杂志,1997,14(2):126-126. 被引量:1

二级参考文献17

  • 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
  • 2陈陵,孙言平,刘国清.枫糖尿病[J].中国实用儿科杂志,1994,9(3):175-176. 被引量:1
  • 3李茹琴,黄玉春,郑洁.枫糖尿病一例[J].中华围产医学杂志,2006,9(2):142-143. 被引量:3
  • 4Chace DH, Kalas TA, Naylor, et al. Use of tandem mass spectrometry for multianlyte screening of dried blood specimens from newborns. Clin Chem, 2003, 1797-1817.
  • 5Schulze A, Lindner M, Kohlmuller D,et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics, 2003, 111(6 Pt 1): 1399-1406.
  • 6Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometry analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem, 2001, 47:1945-1955.
  • 7Wilcken B, Wiley V, Hammond J, et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med, 2003,348:2304-2312.
  • 8Wajner M, Raymond K, Barschak A, et al. Detection of organic acidemias in Brazil. Archives Medical Research, 2002, 33:581-585.
  • 9Shigematsu Y, Hirano S, Hata I, et al. Newborn mass screening and selective screening using elctrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci, 2002, 776:39-48.
  • 10Chace DH, DiPerna JC, Kalas TA, et al. Rapid diagnosis of methylmalonic and propionic acidemias: quantitive tandem mass spectrometry analysis of propionylcarnitine in filter-paper blood specimeans obtained from newborns. Clin Chem, 2001, 47:2040-2044.

共引文献68

同被引文献50

引证文献2

二级引证文献20

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部