5 400例新生儿期遗传代谢性疾病筛查结果分析

王婵, 何玺玉, 封志纯, 孙永强

中国当代儿科杂志 ›› 2010, Vol. 12 ›› Issue (09) : 753-755.

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PDF(909 KB)
中国当代儿科杂志 ›› 2010, Vol. 12 ›› Issue (09) : 753-755.
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5 400例新生儿期遗传代谢性疾病筛查结果分析

  • 王婵,何玺玉,封志纯,孙永强
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Nenatal screening of inherited metabolic diseases: analysis of 5 400 cases

  • WANG Chan, HE Xi-Yu, FENG Zhi-Chun, SUN Yong-Qiang
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王婵, 何玺玉, 封志纯, 孙永强. 5 400例新生儿期遗传代谢性疾病筛查结果分析[J]. 中国当代儿科杂志. 2010, 12(09): 753-755
WANG Chan, HE Xi-Yu, FENG Zhi-Chun, SUN Yong-Qiang. Nenatal screening of inherited metabolic diseases: analysis of 5 400 cases[J]. Chinese Journal of Contemporary Pediatrics. 2010, 12(09): 753-755
中图分类号: R722.11   

参考文献

[1]秦炯, 积极开展遗传代谢疾病诊断与治疗的研究[J]. 中华儿科杂志, 2001, 39(9):514-515.
[2]Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the newborn[J]. Arch Dis Child Fetal Neonatal Ed, 2001, 84(3):F205-F210.
[3]Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis[J]. Pediatrics,1998, 102(6): E69.
[4]宋元宗, 王自能. 新生儿代谢异常的气相色谱-质谱分析法筛查[J]. 国外医学妇幼保健分册, 2002, 13(4):B380-381.
[5]Ellaway CJ, Wilcken B, Christodoulou J. Clinical approach to inborn errors of metabolism presenting in the newborn period[J]. J Paediatr Child Health, 2002, 38(5):511-517.


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