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苯丙酮尿癥,phenylketonuria
1)phenylketonuria[英][,fen?l,ki:t?'nju?ri?][美][,f?n?l,kitn'?ri?, -'j?r-, ,fin?l-]苯丙酮尿癥
1.Newborn Screening of Phenylketonuria by LC/MS/MS;LC/MS/MS方法篩查新生兒苯丙酮尿癥
2.Analysis of factors affecting chemistry fluorescence newborn screening test for phenylketonuria;化學熒光法篩查苯丙酮尿癥的影響因素分析
3.Screening and management of phenylketonuria in Gansu.;甘肅省6萬例新生兒苯丙酮尿癥篩查和治療分析
英文短句/例句

1.The Initial MR Study of Brain Lesions in Chidlren with Phenylketonuria;苯丙酮尿癥兒童腦部病變MR初步研究
2.Design of Phenylketonuria Fluorescence Detection Optical System苯丙酮尿癥熒光檢測光學系統的設計
3.A specific drug to treat PKU: sapropterin dihydrochloride治療苯丙酮尿癥特異性藥物二鹽酸沙丙蝶呤
4.Study on Phe cut-off point of neonatal phenylketonuria screening in Daqing.大慶地區新生兒苯丙酮尿癥苯丙氨酸篩查切值的研究
5.Research on Fluorescence Detection System for Neonatal Phenylketonuria Screening;新生兒苯丙酮尿癥(PKU)熒光篩查系統的研究
6.A Phenylketonuria Detecting System Constituted by Biosensor;利用生物傳感器組建苯丙酮尿癥檢測系統
7.Determination and analysis of trace elements for phenylketonuria infant in Changchun長春地區苯丙酮尿癥患兒微量元素檢測分析
8.Newborn Phenylketonuria in Hebei Province:An analysis of screening results from 2000 to 20082000—2008年河北省新生兒苯丙酮尿癥篩查結果分析
9.Delayed Brain Myelination in Children with Phenylketonuria Complicated with Epilepsia苯丙酮尿癥并癲患兒腦髓鞘病變的意義
10.EVALUATION OF THERAPEUTIC EFFECT AND SCREENING FOR CONGENITAL HY-POTHYROIDISM(CH)AND PHENYLETONURIA(PKU)IN NEONATES新生兒先天性甲狀腺功能低下癥和苯丙酮尿癥的篩查與療效評估
11."Tyrosine: One of the amino acids, not essential for humans unless they have the hereditary disorder phenylketonuria. "酪氨酸 :一種氨基酸,對人體不是必需的,除非它們含有苯丙酮尿癥
12.Mental and Motor Development as Well as Temperament and Behavior in Children with Phenylketonuria;苯丙酮尿癥兒童智力和運動發育及氣質行為研究
13.Use of new methods of rapid genotyping the model mice for phenylketonuria快速鑒定苯丙酮尿癥模型小鼠基因型的新方法應用
14.Malignant phenylketonuria presented with paroxysmal movement disorders:report of one case and review of the literature以陣發性運動障礙為表現的惡性苯丙酮尿癥1例及文獻綜述
15.Screening and group distribute regularity of Phenylketonuria in Henan province河南省苯丙酮尿癥(PKU)篩查及群體分布規律的研究
16.Study on incidence and type of phenylketonuria and congenital hypothyroidism in newborn in Jiangmen city江門地區新生兒先天性甲狀腺功能減低癥與苯丙酮尿癥發病現狀分析與研究
17.Conclusion Newborn screening can let PKU patients get early diagnosis and treatment and also avoid abnormal intelligence development.結論 新生兒篩查能使苯丙酮尿癥患兒得到早期診斷和治療,防止智力低下的發生,
18.Phenylketonuria is a condition in which phenylalanine to tyrosine conversion is diminished because the enzyme phenylalanine hydroxylaze is deficient.苯丙酮酸尿癥是一種由于苯丙氨酸羥化酶缺乏,苯丙氨酸轉變成酪氨酸的過程被削弱的
相關短句/例句

PKU苯丙酮尿癥
1.[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.[目的]為了解蓬萊市新生兒甲狀腺功能低下(CH)和苯丙酮尿癥(PKU)的發病情況,以便早期發現、及時治療。
2.[Objective]To explore the morbidity of Congenital hypothyroidism(CH) and phenylketonuria(PKU) among newborn in Heze city.[目的]了解菏澤市新生兒甲狀腺功能低下癥(CH)與苯丙酮尿癥(PKU)發病率。
3.[Objective]To study the clinical epidemiological features of neonatal disease screening,namely congenital hypothyroidism (CH) and phenylketonuria(PKU).目的研究連云港地區新生兒篩查疾病———先天性甲狀腺功能減退癥(CH)和苯丙酮尿癥(PKU)的臨床流行病學特征。
3)phenylketonuria screening苯丙酮尿癥篩查
1.Design of fluorescence detection system for neonatal phenylketonuria screening;熒光法因具有靈敏度高、操作簡單等優點而成為新生兒苯丙酮尿癥篩查的主要方法。
4)Malignancy phenylketonuria惡性苯丙酮尿癥
5)Phenylketonuria/Diagnosis苯丙酮尿癥/診斷
6)phenylketonuria[英][,fen?l,ki:t?'nju?ri?][美][,f?n?l,kitn'?ri?, -'j?r-, ,fin?l-]苯酮尿癥
延伸閱讀

苯丙酮尿癥苯丙酮尿癥phenyl ketonuria,PK?U 一種較常見的氨基酸代謝病。本病為常染色體隱性遺傳,是由于肝內缺乏苯丙氨酸羥化酶(PAH)。此酶的基因位于第12號染色體長臂。突變基因有多種等位基因,即多態性,各決定PAH酶缺陷的性質和程度。由于肝內缺乏PAH,體內各組織不能將苯丙氨酸(PA)羥化為酪氨酸,致使PA在體內蓄存,形成高苯丙氨酸血癥。同時在轉氨酶的作用下,PA脫氨基而變為苯丙酮酸,后者經氧化作用形成羥苯乙酸、苯乙酸、苯乳酸。這些代謝物蓄積在血、腦脊液和各種組織中,并從尿中大量排出,即苯丙酮尿。正常時,血中和尿中都沒有苯丙酮酸。此病主要的臨床表現是:生長發育遲緩、明顯智能低下、皮膚毛發顏色變淺,尿呈霉樣氣味。治療應從癥狀出現之前(最好在生后不足3個月)予低苯丙氨酸飲食,故應給予特制的低PA食品。
韩国伦理电影