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潍坊市新生儿疾病筛查苯丙氨酸切值的探讨
引用本文:刘金龙,孙明强,田维兵,徐雁,岳国霖,魏莉. 潍坊市新生儿疾病筛查苯丙氨酸切值的探讨[J]. 中国自然医学杂志, 2010, 0(1): 42-43
作者姓名:刘金龙  孙明强  田维兵  徐雁  岳国霖  魏莉
作者单位:潍坊市妇幼保健院新生儿疾病筛查中心;
摘    要:目的探讨通过检测新生儿足跟全血干血片苯丙氨酸(Phe)水平筛查新生儿苯丙酮尿症(PKU)的切值。方法采用连续流动荧光分析仪测定新生儿72 h足跟全血干血片Phe水平。结果正常新生儿Phe频数呈正偏态分布,99%分位数为42.1 mg/L,共筛查40 096例新生儿,确诊5例典型PKU,1例高苯丙氨酸血症(HPA)。结论本地区筛查PKU切值以40.0 mg/L为宜。

关 键 词:新生儿筛查  苯丙酮尿症  苯丙氨酸

An analysis of phenylalanine cut off value for newborn screening in Weifang city
LIU Jin-long,SUN Ming-qiang,TIAN Wei-bing,XU Yan,YUE Guo-lin,WEI Li. An analysis of phenylalanine cut off value for newborn screening in Weifang city[J]. Chinese Journal of Natural Medicine, 2010, 0(1): 42-43
Authors:LIU Jin-long  SUN Ming-qiang  TIAN Wei-bing  XU Yan  YUE Guo-lin  WEI Li
Affiliation:.(Newborn Screening Center,Weifang Women′s and Children′s Health Care Hospital,Weifang,Shangdong 261041,China )
Abstract:Objective To explore the phenylalanine(Phe)cut-off value for newborn screening of phenylketonuria(PKU).Methods Heel blood was collected from newborns 72 hours after delivery in hospitals of Weifang during January and June,2009.Phe concentrations of the blood samples were detected by continuous flow fluorescence analyzer.Results The concentrations of Phe showed a skew-normal distribution,with the 99% quantile of 42.1 mg/L.A total of 40 096 neonates were screened,among whom,5 cases were diagnosed with PKU,and...
Keywords:Newborn screening  Phenylketonuria(PKU)  Phenylalanine(Phe)  
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