phenylketonuria

phenylketonuria

美 　英

• n.【医】苯酮尿
• 网络苯酮尿症；苯丙酮尿症；苯丙酮酸尿症

英汉解释

n.

1. 【医】苯酮尿

英英解释

n.	1. a condition, resulting from a genetic mutation, in which the body lacks the enzyme to metabolize phenylalanine. If untreated, it results in developmental deficiency, seizures, and tumors.

例句

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。

Conclusion: The special bone changes in phenylketonuria were important X-ray signs suggestive of phenylketonuria .

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。

Study on brain delayed myelination and blood phenylalanine of patients with phenylketonuria.

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。

Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation.

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。

A study of phenylketonuria heterozygotes screening in married population of Tianjin area

天津地区已婚群体苯丙酮尿症杂合子筛查

Correlation of Conventional Magnetic Resonance Imaging and Clinical Biochemistry of Brain Lesion in Children with Phenylketonuria

苯丙酮尿症儿童脑部磁共振成像与临床生化的相关性

Comparison of serum amino acid content before and after controlling pathogenetic condition in patients with phenylketonuria

苯丙酮尿症患者病情控制前后血清氨基酸含量比较

Determination of blood contents of calcium and trace elements in children with phenylketonuria on a low phenylalanine diet

饮食治疗苯丙酮尿症患儿全血钙及微量元素水平分析

Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria

经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定

Research on Fluorescence Detection System for Neonatal Phenylketonuria Screening

新生儿苯丙酮尿症荧光筛查系统的研究

Reproductive damage and its prevention for women with phenylketonuria

妇女苯丙酮尿症的生殖健康危害及其预防

The behavioral and emotional problems of patients with phenylketonuria early treated with dietotherapy

饮食治疗的苯丙酮尿症精神行为问题

Evaluation of two methods for phenylketonuria screening in newborn

新生儿苯丙酮尿症两种实验室筛查方法的质量评价

Detection of phenylketonuria heterozygotes by tandem mass spectrometry

串联质谱技术对苯丙酮尿症杂合子的检测

Determination of phenylalanine hydroxylasegene mutation of phenylketonuria in Inner Mongolia

内蒙古地区苯丙酮尿症苯丙氨酸羟化酶基因突变的检测

Advancement of Biochemical and Brain Neurological Injury in Phenylketonuria

苯丙酮尿症生化学异常与脑神经损伤关系的研究进展

Study on mental retardation and brain delayed myelination of patients with phenylketonuria

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

Research on Enzyme-biosensor Detecting Phenylketonuria

检验苯丙酮尿症的酶生物传感器研究

Prenatal Gene Diagnosis and Synthetic Analysis in High Risk Phenylketonuria

高危苯丙酮尿症胎儿产前基因诊断的综合分析

Analysis on the screening results of neonatal phenylketonuria in Gansu province

甘肃省新生儿苯丙酮尿症筛查结果分析

Analysis on Neonatal Screening for Phenylketonuria in Fujian, China

福建省新生儿苯丙酮尿症筛查状况分析

Screening and management of phenylketonuria in Henan Province

河南地区苯丙酮尿症的筛查和治疗

The analysis on results of neonatal screening for phenylketonuria in Weihai City

威海市新生儿苯丙酮尿症筛查结果分析

Screening and follow - up of neonatal phenylketonuria

新生儿苯丙酮尿症的筛查和随访

Advances in the Studies of Molecular Heredity of Phenylketonuria

苯丙酮尿症分子遗传学研究进展

The Study of Abnormal Expression of Brain Proteins and Brain Damage in Phenylketonuria

苯酮尿症中脑蛋白异常表达与脑损伤关系的研究

An Eighteen-year Study on Phenylketonuria

苯丙酮尿症研究十八年

Studies on mutations of exon 11 and 12 in phenylalaninase gene of phenylketonuria patients in Xinjiang

新疆苯丙酮尿症患者苯丙氨酸羟化酶基因第11、12外显子点突变分析