苯丙酮尿症患儿尿中异常有机酸代谢物的GC/MS分析
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摘要: 对在遗传代谢性疾病的新生儿筛查中发现的两例苯丙酮尿症患儿的尿样进行了GC/MS定量分析,发现了高含量的苯丙氨酸的异常代谢物。Abstract: Analysis of Abnormal Metabolite of Urine of Phenylketonur by GC/MSLiu Ling;Han Haisheng;He Liping;Qiu Shuyun(Tianjin Medical University,Tianjin 300070,China)Received Abstract:A high content of abnormal metabolite of phenylalanine was found by GC/MS quantitative estimate of urine of PKU in sieving examination of newborn baby with hereditary matabolic disease.Keywords:phenylketonur,organic acid,GC/MS,sieving examination of newborn baby