1) Phenylketonurias
苯丙氨酸尿症
2) hyperphenylalaninemia
高苯丙氨酸血症
1.
Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients;
四氢生物蝶呤负荷试验在高苯丙氨酸血症鉴别诊断中的价值
2.
Objective To investigate the distribution character of the mutations of 6-pyruvoyl tetrahydropterin synthase (PTPS) gene and to provide effective basis for gene diagnosis of tetrahydrobiopterin deficiency (BH4D) in children with hyperphenylalaninemia.
方法应用PCR-序列分析法对5例疑似BH4D的高苯丙氨酸血症患儿及其父母进行PTPS基因突变检测;应用序列比对和突变蛋白结构分析推测检测到的新突变的性质,同时用人工引入酶切位点的酶切方法对正常人群进行新突变的筛查。
3.
Objective To explore clinical characteristics of phenylalanine hydroxylase(PAH) deficiency in differential diagnosis among hyperphenylalaninemia(HPA) patients and compare the responses to diet treatment in HPA patients.
目的探讨不同类型高苯丙氨酸血症(HPA)临床表型,了解HPA患者对低苯丙氨酸(Phe)饮食治疗的反应性。
4) Propionic aciduria
丙酸尿症
5) phenylketonuria
[英][,fenəl,ki:tə'njuəriə] [美][,fɛnəl,kitn'ʊriə, -'jʊr-, ,finəl-]
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
6) 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。
补充资料：苯酮酸尿症
苯酮酸尿症
指体内苯丙氨酸羧化 酶缺陷，苯丙氨酸不能正常转变成酪氨酸，因此苯丙氨酸经转氨作用生成苯丙酮酸、苯乙酸等，并从尿里排出一种遗传性疾病。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条