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新生儿遗传代谢病4785例筛查结果分析报告 被引量:2

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摘要 遗传代谢病(inherited metabolic disorders,IMD)是因维持机体正常代谢所必需的某些酶、受体、载体及膜泵等生物合成发生缺陷而导致的疾病。目前对于IMD大多缺乏根治方法,因此产前诊断及新生儿筛查对促进优生优育具有重要意义^([1])。据原卫生部发布的全国出生缺陷监测结果^([2]),中国每年都有80万~120万个先天残疾儿童。
出处 《山西医药杂志》 CAS 2018年第11期1336-1337,共2页 Shanxi Medical Journal
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  • 1李智文,任爱国,张乐,郭湛英,李松,叶荣伟,翟瑞琴,贾霖涛,肖燕萍,赵买会,李印忠,朱新,周敏霞,李竹.中国2003年出生缺陷高发区和低发区重大体表畸形患病率监测[J].中华流行病学杂志,2005,26(4):252-257. 被引量:65
  • 2蒋立春.产科抑郁与儿童发展[J].国外医学(妇幼保健分册),1995,6(1):1-4. 被引量:66
  • 3段薇.串联质谱在新生儿遗传性代谢疾病筛查中的应用[J].中华检验医学杂志,2007,30(7):816-817. 被引量:8
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  • 8Hissa M, George C, Revi M, et al. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983--2008[J]. Ann Saudi Med, 2010,30 : 271-277.
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