苯丙酮尿症,phenylketonuria
1)phenylketonuria[英][,fen?l,ki:t?'nju?ri?][美][,f?n?l,kitn'?ri?, -'j?r-, ,fin?l-]苯丙酮尿症
1.Newborn Screening of Phenylketonuria by LC/MS/MS;LC/MS/MS方法筛查新生儿苯丙酮尿症
2.Analysis of factors affecting chemistry fluorescence newborn screening test for phenylketonuria;化学荧光法筛查苯丙酮尿症的影响因素分析
3.Screening and management of phenylketonuria in Gansu.;甘肃省6万例新生儿苯丙酮尿症筛查和治疗分析
英文短句/例句

1.The Initial MR Study of Brain Lesions in Chidlren with Phenylketonuria;苯丙酮尿症儿童脑部病变MR初步研究
2.Design of Phenylketonuria Fluorescence Detection Optical System苯丙酮尿症荧光检测光学系统的设计
3.A specific drug to treat PKU: sapropterin dihydrochloride治疗苯丙酮尿症特异性药物二盐酸沙丙蝶呤
4.Study on Phe cut-off point of neonatal phenylketonuria screening in Daqing.大庆地区新生儿苯丙酮尿症苯丙氨酸筛查切值的研究
5.Research on Fluorescence Detection System for Neonatal Phenylketonuria Screening;新生儿苯丙酮尿症(PKU)荧光筛查系统的研究
6.A Phenylketonuria Detecting System Constituted by Biosensor;利用生物传感器组建苯丙酮尿症检测系统
7.Determination and analysis of trace elements for phenylketonuria infant in Changchun长春地区苯丙酮尿症患儿微量元素检测分析
8.Newborn Phenylketonuria in Hebei Province:An analysis of screening results from 2000 to 20082000—2008年河北省新生儿苯丙酮尿症筛查结果分析
9.Delayed Brain Myelination in Children with Phenylketonuria Complicated with Epilepsia苯丙酮尿症并癫患儿脑髓鞘病变的意义
10.EVALUATION OF THERAPEUTIC EFFECT AND SCREENING FOR CONGENITAL HY-POTHYROIDISM(CH)AND PHENYLETONURIA(PKU)IN NEONATES新生儿先天性甲状腺功能低下症和苯丙酮尿症的筛查与疗效评估
11."Tyrosine: One of the amino acids, not essential for humans unless they have the hereditary disorder phenylketonuria. "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
12.Mental and Motor Development as Well as Temperament and Behavior in Children with Phenylketonuria;苯丙酮尿症儿童智力和运动发育及气质行为研究
13.Use of new methods of rapid genotyping the model mice for phenylketonuria快速鉴定苯丙酮尿症模型小鼠基因型的新方法应用
14.Malignant phenylketonuria presented with paroxysmal movement disorders:report of one case and review of the literature以阵发性运动障碍为表现的恶性苯丙酮尿症1例及文献综述
15.Screening and group distribute regularity of Phenylketonuria in Henan province河南省苯丙酮尿症(PKU)筛查及群体分布规律的研究
16.Study on incidence and type of phenylketonuria and congenital hypothyroidism in newborn in Jiangmen city江门地区新生儿先天性甲状腺功能减低症与苯丙酮尿症发病现状分析与研究
17.Conclusion Newborn screening can let PKU patients get early diagnosis and treatment and also avoid abnormal intelligence development.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,
18.Phenylketonuria is a condition in which phenylalanine to tyrosine conversion is diminished because the enzyme phenylalanine hydroxylaze is deficient.苯丙酮酸尿症是一种由于苯丙氨酸羟化酶缺乏,苯丙氨酸转变成酪氨酸的过程被削弱的
相关短句/例句

PKU苯丙酮尿症
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]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。
2.[Objective]To explore the morbidity of Congenital hypothyroidism(CH) and phenylketonuria(PKU) among newborn in Heze city.[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。
3.[Objective]To study the clinical epidemiological features of neonatal disease screening,namely congenital hypothyroidism (CH) and phenylketonuria(PKU).目的研究连云港地区新生儿筛查疾病———先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU)的临床流行病学特征。
3)phenylketonuria screening苯丙酮尿症筛查
1.Design of fluorescence detection system for neonatal phenylketonuria screening;荧光法因具有灵敏度高、操作简单等优点而成为新生儿苯丙酮尿症筛查的主要方法。
4)Malignancy phenylketonuria恶性苯丙酮尿症
5)Phenylketonuria/Diagnosis苯丙酮尿症/诊断
6)phenylketonuria[英][,fen?l,ki:t?'nju?ri?][美][,f?n?l,kitn'?ri?, -'j?r-, ,fin?l-]苯酮尿症
延伸阅读

苯丙酮尿症苯丙酮尿症phenyl ketonuria,PK?U 一种较常见的氨基酸代谢病。本病为常染色体隐性遗传,是由于肝内缺乏苯丙氨酸羟化酶(PAH)。此酶的基因位于第12号染色体长臂。突变基因有多种等位基因,即多态性,各决定PAH酶缺陷的性质和程度。由于肝内缺乏PAH,体内各组织不能将苯丙氨酸(PA)羟化为酪氨酸,致使PA在体内蓄存,形成高苯丙氨酸血症。同时在转氨酶的作用下,PA脱氨基而变为苯丙酮酸,后者经氧化作用形成羟苯乙酸、苯乙酸、苯乳酸。这些代谢物蓄积在血、脑脊液和各种组织中,并从尿中大量排出,即苯丙酮尿。正常时,血中和尿中都没有苯丙酮酸。此病主要的临床表现是:生长发育迟缓、明显智能低下、皮肤毛发颜色变浅,尿呈霉样气味。治疗应从症状出现之前(最好在生后不足3个月)予低苯丙氨酸饮食,故应给予特制的低PA食品。