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目的研究苯丙酮尿症的骨骼X线表现。Objective To report the bone X ray changes in phenylketonuria.

目的探讨苯丙酮尿症的基因诊断方法。Objective To study the method for gene diagnosis of phenylketonuria.

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是筛查氨基酸代谢病尤其筛查苯丙酮尿症的准确而简便的方法。This method is suited for identifying errors of amino acid metabolism and phenylketonuria in particular.

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.

SSCP分析法可有效地用于苯丙酮尿症的基因诊断。This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.

儿童苯丙酮尿症的管理需要多学科的协作。The management of phenylketonuria in childhood requires a multidisciplinary approach across the hospital community interface.

并对正常儿、苯丙酮尿症患儿、神经母细胞瘤患儿的尿标本进行了两种方法的对比研究。Urine sample of the normal children and children patients with phenylketonuria or neuroblastoma were analysed by two methods.

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探讨荧光MGB探针实时PCR技术检测经典型苯丙酮尿症的基因突变。To develop a fluorescent MGB probe real time PCR platform for detection the mutation of phenylalanine hydroxylase gene in patients with phenylketonuria.

苯丙氨酸脱氢酶因在临床上可用作苯丙酮尿症的检测用酶，工业上可用于合成手性氨基酸而越来越受到关注。As phenylalanine dehydrogenase is used to determine the concentration of plasma phenylalanine for monitoring of phenylketonuria and synthesize L-amino acids, it is drawing more and more attention.

据报道与唇腭裂相关的母体的致畸因素有酒精、母体的苯丙酮尿症、高热、乙内酰脲、三甲双酮、氨喋呤、氨甲蝶呤等。Maternal teratogens that hae been reported in association with cleft lip and palate include alcohol, maternal phenylketonuria , hyperthermia, hydantoin, trimethadione, aminopterin, and methotrexate.

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。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.