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.
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.
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.
该装置已应用在新生儿苯丙酮尿症荧光检测仪器中。
This instrument has been used in PKU fluorescence laboratory equipment for the newborn baby.
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.
BDNF对治疗苯丙酮尿症脑损伤可能具有潜在的应用价值。
It suggested a potential neuroprotective action of BDNF in prevention and treatment of brain injury in the patients with 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。
Objective to establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.
目的提高对母亲苯丙酮尿症(MPKU)后代脑mri表现的认识。
Objective to make a further understanding of MRI manifestations of the brain in maternal phenylketonuria (MPKU) offspring.
酪氨酸：一种氨基酸，对人体不是必需的，除非它们含有苯丙酮尿症。
Tyrosine: One of the amino acids, not essential for humans unless they have the hereditary disorder phenylketonuria.
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.
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.
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。
To explore the morbidity of Congenital hypothyroidism (CH) and phenylketonuria (PKU) among newborn in Heze city.
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.
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。
Objective To describe the incidence of congenital hypothyroidism(CH)and phenylketonuria(PKU)in Maanshan city.
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.
[目的]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。
Objective]To explore the morbidity of Congenital hypothyroidism(CH) and phenylketonuria(PKU) among newborn in Heze city.
目的总结20年对652例苯丙酮尿症患儿进行低苯丙氨酸饮食治疗经验，探讨有效的饮食控制方案。
Objective: to explore effective dietary regimens in treating phenylketonuria (PKU) after summing up 20 years practice in 652 patients.
提取能导致苯丙酮尿症（PKU）的基因突变.患这种病的人不能分解氨基酸苯丙氨酸，这会导致严重的认知损坏。
Take the gene mutation that causes phenylketonuria, or PKU. People with the disease can't break down the amino acid phenylalanine, a problem that can lead to severe cognitive damage.
目的探讨连云港地区新生儿先天性甲状腺功能减退症(CH)及苯丙酮尿症(PKU)发病及分布特征。
Objective to explore the incidence and distribution features of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Lianyungang area.
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.
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.
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。
To understand the prevalence of thyroid hypofunction (CH) and phenylketonuria (PKU) among newborn in Penglai in order to find and treat them in time.
提取能导致苯丙酮尿症(pku)的基因突变。患这种病的人不能分解氨基酸苯丙氨酸，这会导致严重的认知损坏。
Take the gene mutation that causes phenylketonuria or PKU. People with the disease can't break down the amino acid phenylalanine a problem that can lead to severe cognitive damage.
[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。
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.
应用基因短片段重复序列（STR）对4例曾生育过经典型苯丙酮尿症（PKU）患儿的孕妇，在妊娠8～11周进行产前诊断。
Prenatal diagnosis was made for 4 women at 8~11 weeks pregnant who had given birth to phenylketonuria(PKU) babies.
本文分析94例苯丙酮尿症患者的脑电图，结果异常率为65%，异常表现以痫样放电为主80%，少数为背景活动异常(20%)。
The EEG in 94 patients with phenylketonuria was analyzed. The abnormality rate of EEG was 65%, mainly showing epileptiform discharges (80%), partly showing background activity abnormality (20%).
目的：研究内蒙古地区经典型苯丙酮尿症（PKU）苯丙氨酸羟化酶（PAH）基因突变的特点和频率，以提高该地区PKU的基因诊断率。
Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.
因为苯丙酮尿症，我觉得很幸福，因为，随着时间的推移，它激发了我的激情去更多的了解关于人体新陈代谢的基因并在该领域建立我的职业。
I feel blessed by PKU because, over time, it has created a passion within me to learn more about the genetics of human metabolism and establish a career in that field.
因为苯丙酮尿症，我觉得很幸福，因为，随着时间的推移，它激发了我的激情去更多的了解关于人体新陈代谢的基因并在该领域建立我的职业。
I feel blessed by PKU because, over time, it has created a passion within me to learn more about the genetics of human metabolism and establish a career in that field.
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