目的建立一种简便、准确和快速的筛查苯丙酮尿症突变基因的方法。
Objective to establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.
结论新生儿筛查能使苯丙酮尿症患儿得到早期诊断和治疗，防止智力低下的发生。
Conclusion Newborn screening can let PKU patients get early diagnosis and treatment and also avoid abnormal intelligence development.
方法用荧光法测定新生儿滤纸干血片上的苯丙氨酸浓度以筛查苯丙酮尿症。
Methods Phenylalanine(phe) concentration in dried-blood spot specimens on filter paper was detected by fluorometric method.
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