• 儿童苯丙酮尿管理需要学科协作。

    The management of phenylketonuria in childhood requires a multidisciplinary approach across the hospital community interface.

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  • 装置应用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.

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  • SSCP分析法有效地用于苯丙酮尿基因诊断

    This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.

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  • BDNF治疗苯丙酮尿症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.

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  • 目的建立一种简便准确快速筛查苯丙酮尿突变基因方法

    Objective to establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.

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  • 目的提高对母亲丙酮尿症(MPKU)后代mri表现认识

    Objective to make a further understanding of MRI manifestations of the brain in maternal phenylketonuria (MPKU) offspring.

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  • 酪氨酸氨基酸人体不是必需的除非它们含有丙酮尿症

    Tyrosine: One of the amino acids, not essential for humans unless they have the hereditary disorder phenylketonuria.

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  • 探讨荧光mgb探针实时PCR技术检测典型苯丙酮尿症基因突变

    To develop a fluorescent MGB probe real time PCR platform for detection the mutation of phenylalanine hydroxylase gene in patients with phenylketonuria.

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  • 方法荧光测定新生儿滤纸干血片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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  • 了解菏泽市新生儿甲状腺功能低下(CH)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.

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  • 结论新生儿筛查使苯丙酮尿症患儿得到早期诊断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.

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  • 目的:报告先天性甲状腺功能低下CH苯丙酮尿症PKU患病率

    Objective To describe the incidence of congenital hypothyroidism(CH)and phenylketonuria(PKU)in Maanshan city.

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  • 正常苯丙酮尿症患儿神经母细胞瘤患儿尿标本进行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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  • [目的]了解菏泽市新生儿甲状腺功能低下CH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.

    youdao

  • 目的总结20652苯丙酮尿症患儿进行低丙氨酸饮食治疗经验,探讨有效饮食控制方案

    Objective: to explore effective dietary regimens in treating phenylketonuria (PKU) after summing up 20 years practice in 652 patients.

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  • 提取能导致丙酮尿症PKU基因突变.患这种不能分解氨基酸氨酸,这会导致严重认知损坏

    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.

    youdao

  • 目的探讨连云港地区新生儿先天性甲状腺功能减退(CH)苯丙酮尿症(PKU)发病分布特征

    Objective to explore the incidence and distribution features of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Lianyungang area.

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  • 氨酸脱氢酶因在临床上可用丙酮尿症检测用酶,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.

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  • 先天性甲状腺功能低下苯丙酮尿症治疗早晚的ABR对比观察,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.

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  • 了解蓬莱市新生儿甲状腺功能低下(CH)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.

    youdao

  • 提取能导致丙酮尿症(pku)基因突变。患这种不能分解氨基酸丙氨酸,这会导致严重认知损坏

    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.

    youdao

  • [目的]为了解蓬莱市新生儿甲状腺功能低下(CH)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.

    youdao

  • 应用基因短片段重复序列(STR)4生育过经典型丙酮尿症(PKU)患儿的孕妇妊娠811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.

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  • 本文分析94丙酮尿症患者脑电图,结果异常为65%,异常表现样放电为主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%).

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  • 目的研究内蒙古地区经典型丙酮尿症(PKU)丙氨酸化酶(PAH基因突变特点频率,提高地区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.

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  • 因为苯丙酮尿症觉得很幸福因为随着时间推移,激发激情更多了解关于人体新陈代谢基因领域建立的职业

    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.

    youdao

  • 因为苯丙酮尿症觉得很幸福因为随着时间推移,激发激情更多了解关于人体新陈代谢基因领域建立的职业

    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.

    youdao

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