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新生儿枫糖尿病MRI表现一例

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摘要 患儿男,10天。因拒食、吐沫、反应差2天入院。患儿胎龄38+4周,生后无窒息,Apgar评分正常,父母非近亲结婚。入院体检:发育差,哭声弱小,面色轻度黄染,肌张力低下,拥抱反射减弱,心肺听诊双肺呼吸音粗,漏斗胸,尿液呈特殊的"枫糖浆味"。实验室检查:白细胞10.4×109/L,血糖3.8 mmol/L,酮体(-),血氨187μmol/L,总胆红素71μmol/L。
出处 《临床放射学杂志》 CSCD 北大核心 2015年第5期728-729,共2页 Journal of Clinical Radiology
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  • 1Menkes JH,Hurst PL,Craig JM. A new syndrome:progressive famil- ial infantile cerebral dysfunction associated with an unusual urinary substance [ J ]. Pediatrics. 1954,14:462-467. 被引量:1
  • 2Seriver CR, Beandet AL, Sly WS. The metabolic and molecular bases of inherited disease [ M ]. New York: McGraw-Hill, 2001, 1971- 2005. 被引量:1
  • 3杨楠,韩连书,叶军,邱文娟,张惠文,高晓岚,王瑜,李筱燕,许浩,顾学范.枫糖尿病患者临床表现及质谱检测结果分析[J].中华医学杂志,2012,92(40):2839-2842. 被引量:12
  • 4Zinnanti W J, Lazovic J, Griffin K, el at Dual mechanism of brain in- jury and novel treatment stratesy in maple syrup in maple syrup urine disease[ J]. Brain ,2009,132:903-918. 被引量:1
  • 5Righini A, Ramenghi LA, Parini R, et aL Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenicinterstitial edema [ J ]. J Neuroimaging,2003 : 162-165. 被引量:1

二级参考文献17

  • 1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
  • 2Chuang DT, Chuang JL, Wynn RM. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr, 2006, 136:243S-249S. 被引量:1
  • 3Puffenberger EG. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania Am J Med Genet C Semin Med Genet, 2003, 121C:18-31. 被引量:1
  • 4Niu DM, Chien YH, Chiang CC, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis, 2010, 33:295-305. 被引量:1
  • 5Zinnanti WJ, Lazovic J, Griffin K, et al. Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain ,2009,132 : 903-918. 被引量:1
  • 6Lee JY, Chiong MA, Estrada SC, et al. Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients. J Inherit Metab Dis, 2008, 31 Suppl 2 :$281-$285. 被引量:1
  • 7II Janeckova H, Hron K, Wojtowicz P, et al. Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders. J Chromatogr A, 2012, 1226 : 11-17. 被引量:1
  • 8Fingerhut R, Simon E, Maier EM, et al. Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. Clin Chem, 2008, 54:1739-1741. 被引量:1
  • 9Puckett RL, Lorey F, Rinaldo P, et al. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab, 2010, 100 : 136-142. 被引量:1
  • 10Sowell J, Pollard L, Wood T. Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease. J Sep Sci, 2011, 34: 631-639. 被引量:1

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