新生儿枫糖尿病1例报告

凌雅, 钱燕, 彭秀兰, 王凯, 高洁锦, 徐爱琴

中国当代儿科杂志 ›› 2009, Vol. 11 ›› Issue (12) : 945-946.

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中国当代儿科杂志 ›› 2009, Vol. 11 ›› Issue (12) : 945-946.
病例报告

新生儿枫糖尿病1例报告

  • 凌雅,钱燕,彭秀兰,王凯,高洁锦,徐爱琴
作者信息 +

Maple syrup urine disease in a neonate

  • LING Ya, QIAN Yan, PENG Xiu-Lan, WANG Kai, GAO Jie-Jin, XU Ai-Qin
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凌雅, 钱燕, 彭秀兰, 王凯, 高洁锦, 徐爱琴. 新生儿枫糖尿病1例报告[J]. 中国当代儿科杂志. 2009, 11(12): 945-946
LING Ya, QIAN Yan, PENG Xiu-Lan, WANG Kai, GAO Jie-Jin, XU Ai-Qin. Maple syrup urine disease in a neonate[J]. Chinese Journal of Contemporary Pediatrics. 2009, 11(12): 945-946
中图分类号: R725.8   

参考文献

[1]郭建峰,张芳,王风秀.枫糖尿病1例[J].临床荟萃,2007,22(17):1279.
[2]黄玉春,张春花,李茹琴,庄兰春,程宪,郭惟.先天性遗传代谢病的早期诊断[J].中国新生儿科杂志, 2005, 20(3):101-103.
[3]李茹琴,黄玉春,郑洁.枫糖尿病一例[J].中华围产医学杂, 2006, 9(2):142-143.
[4]金汉珍,黄德珉,官希吉.实用新生儿学[M].第3版.北京:人民卫生出版社,2003, 896-899.
[5]Spankovich, Lustig LK. Restoration of brain stem auditory-evoked potential in maple syrup urine disease[M].Otol Neurotol, 2007, 28(4):566-569.
[6]Chuang DT, Chuang JL, Wynn RM.Lessons from genetic disorders of branched-chain amino acid metabolism[J]. J Nutr, 2006,136(1):243S-249S.
[7]Homanics GE, Skvorak K, Ferguson C, Watkins S, Paul SH.Production and characterization of murine models of classic and intermediate maple syrup urine disease[J]. BMC Med Genet, 2006, 31(7):33.
[8]Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, et al. Psychosocial issues in families affected by maple syrup urine disease [J]. J Genet Couns, 2007, 16(6):799-809.


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