phenylketonuria

phenylketonuria

美 　英

• n.【醫】苯酮尿
• 網絡苯酮尿癥；苯丙酮尿癥；苯丙酮酸尿癥

英漢解釋

n.

1. 【醫】苯酮尿

英英解釋

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.

兒童苯丙酮尿癥的管理需要多學科的協作。

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

結論：苯丙酮尿癥特異性的骨骼改變是診斷苯丙酮尿癥的重要X線征。

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

苯丙酮尿癥患兒腦髓鞘發育延遲與血苯丙氨酸濃度關系的研究。

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

苯丙酮尿癥是由于苯丙氨酸羥化酶基因突變引起的常染色體隱性遺傳病。

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

天津地區已婚群體苯丙酮尿癥雜合子篩查

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

苯丙酮尿癥兒童腦部磁共振成像與臨床生化的相關性

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

苯丙酮尿癥患者病情控制前后血清氨基酸含量比較

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

飲食治療苯丙酮尿癥患兒全血鈣及微量元素水平分析

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

經典型苯丙酮尿癥苯丙氨酸羥化酶基因的新突變鑒定

Research on Fluorescence Detection System for Neonatal Phenylketonuria Screening

新生兒苯丙酮尿癥熒光篩查系統的研究

Reproductive damage and its prevention for women with phenylketonuria

婦女苯丙酮尿癥的生殖健康危害及其預防

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

飲食治療的苯丙酮尿癥精神行為問題

Evaluation of two methods for phenylketonuria screening in newborn

新生兒苯丙酮尿癥兩種實驗室篩查方法的質量評價

Detection of phenylketonuria heterozygotes by tandem mass spectrometry

串聯質譜技術對苯丙酮尿癥雜合子的檢測

Determination of phenylalanine hydroxylasegene mutation of phenylketonuria in Inner Mongolia

內蒙古地區苯丙酮尿癥苯丙氨酸羥化酶基因突變的檢測

Advancement of Biochemical and Brain Neurological Injury in Phenylketonuria

苯丙酮尿癥生化學異常與腦神經損傷關系的研究進展

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

治療延遲的苯丙酮尿癥患兒腦髓鞘發育延遲與智力發育的研究

Research on Enzyme-biosensor Detecting Phenylketonuria

檢驗苯丙酮尿癥的酶生物傳感器研究

Prenatal Gene Diagnosis and Synthetic Analysis in High Risk Phenylketonuria

高危苯丙酮尿癥胎兒產前基因診斷的綜合分析

Analysis on the screening results of neonatal phenylketonuria in Gansu province

甘肅省新生兒苯丙酮尿癥篩查結果分析

Analysis on Neonatal Screening for Phenylketonuria in Fujian, China

福建省新生兒苯丙酮尿癥篩查狀況分析

Screening and management of phenylketonuria in Henan Province

河南地區苯丙酮尿癥的篩查和治療

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

威海市新生兒苯丙酮尿癥篩查結果分析

Screening and follow - up of neonatal phenylketonuria

新生兒苯丙酮尿癥的篩查和隨訪

Advances in the Studies of Molecular Heredity of Phenylketonuria

苯丙酮尿癥分子遺傳學研究進展

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

苯酮尿癥中腦蛋白異常表達與腦損傷關系的研究

An Eighteen-year Study on Phenylketonuria

苯丙酮尿癥研究十八年

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

新疆苯丙酮尿癥患者苯丙氨酸羥化酶基因第11、12外顯子點突變分析