结论：苯丙酮尿症特异性的骨骼改变是诊断苯丙酮尿症的重要X线征。
苯丙酮尿症患儿脑髓鞘发育延迟与血苯丙氨酸浓度关系的研究。
苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。
治疗延迟的苯丙酮尿症患儿脑髓鞘发育延迟与智力发育的研究
1·To understand the prevalence of thyroid hypofunction (CH) and phenylketonuria (PKU) among newborn in Penglai in order to find and treat them in time.
为了解蓬莱市新生儿甲状腺功能低下(CH)和苯丙酮尿症(pku)的发病情况，以便早期发现、及时治疗。
2·To explore the morbidity of Congenital hypothyroidism (CH) and phenylketonuria (PKU) among newborn in Heze city.
了解菏泽市新生儿甲状腺功能低下症(CH)与苯丙酮尿症(PKU)发病率。
3·The comparison of ABR changes at the beginning of therapy against congenital hypothyroidism and phenylketonuria and later could serve as an objective criteria for follow-up of therapeutic efficiency.
先天性甲状腺功能低下及苯丙酮尿症的治疗早晚的ABR对比观察，可作为疗效随访和追踪观察的客观指标。
4·Objective To describe the incidence of congenital hypothyroidism(CH)and phenylketonuria(PKU)in Maanshan city.
目的：报告先天性甲状腺功能低下症（CH）和苯丙酮尿症（PKU）的患病率。
5·Objective to understand the prevalence of thyroid hypofunction (CH) and phenylketonuria (PKU) among newborn in Penglai in order to find and treat them in time.
[目的]为了解蓬莱市新生儿甲状腺功能低下(CH)和苯丙酮尿症(pku)的发病情况，以便早期发现、及时治疗。
1·Objective to study the method for gene diagnosis of phenylketonuria.
目的探讨苯丙酮尿症的基因诊断方法。
2·Objective to establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.
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。
3·The management of phenylketonuria in childhood requires a multidisciplinary approach across the hospital community interface.
儿童苯丙酮尿症的管理需要多学科的协作。
4·Objective to report the bone X ray changes in phenylketonuria.
目的研究苯丙酮尿症的骨骼X线表现。
5·This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.
SSCP分析法可有效地用于苯丙酮尿症的基因诊断。