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目的建立新生儿疾病筛查干血片法苯丙氨酸(Phe)测定在新疆地区新生儿苯丙酮尿症的切值(cutoff)。方法新生儿出生72h后经充分哺乳后采集足跟血滤纸标本,采用荧光分析法检测滤纸干血斑中苯丙氨酸(PKU)浓度。结果通过三年内筛查的65 288例新生儿PKU测定结果确定本实验室新生儿苯丙酮尿症筛查切值为2.0 mg/d L。结论新生儿Phe实验切值的确立为新疆地区今后的新生儿PKU筛查提供了依据。
Objective To establish a newborn screening of dry matter tablets method of phenylalanine (Phe) determination in Xinjiang neonatal phenylketonuria cutoff (cutoff). Methods Hemorrhagic fever was collected 72 h after birth and heel blood filter paper was collected. The concentration of phenylalanine (PKU) in dried blood spots of the filter paper was detected by fluorescence analysis. Results According to PKU results of 65 288 newborns screened in three years, the newborn screening rate for phenylketonuria in our laboratory was 2.0 mg / dL. Conclusion The establishment of the newborn Phe experimental cut value provides the basis for the future screening of neonatal PKU in Xinjiang.