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- atypieal phenylketonuria 非典型性苯丙酮尿症, 高苯丙氨酸血症V型
- Objective:To describe the bone X-ray changes in phenylketonuria. 目的：探讨苯丙酮尿症患者的骨骼X线学表现。
- Objective:To describe the bone X ray changes in phenylketonuria. 目的:探讨苯丙酮尿症患者的骨骼X线学表现。
- 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
- 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。
- 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。
- Objective:To summarize the brain abnormalities in phenylketonuria(PKU) patients by using MRI. 目的：分析苯丙酮尿症颅脑MRI异常表现。
- Because of its phenylalanine content, persons with phenylketonuria must avoid it. 由于内含苯丙氨酸，患有苯丙酮尿症（phenylketonuria）的人必须避免。
- Persons with phenylketonuria do not metabolize phenylalanine properly and must adhere to a diet free of it. 患有苯丙酮尿症的人不能进行苯丙氨酸的正常代谢,必须采取没有苯丙氨酸的饮食方式。
- Objective To describe the incidence of congenital hypothyroidism(CH)and phenylketonuria(PKU)in Maanshan city. 目的:报告先天性甲状腺功能低下症(CH)和苯丙酮尿症(PKU)的患病率。
- 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
- Phenylketonuria(PKU) is one kinds of autusomal 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。
- Methods:Seventy-three patients with clinically and biochemically documented phenylketonuria were studied with use of 0.5 T superconductive MRI. 方法：用0.;5T超导磁共振机对临床检查和生化测定确诊的73例苯丙酮尿症患儿行头颅扫描。
- Abstract: Phenylketonuria(PKU) is one kinds of autusomal 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。
- Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase(PAH)gene of the patients with phenylketonuria(PKU)in Xinjiang. 目的分析新疆地区苯丙酮尿症(PKU)患者中苯丙氨酸羟化酶(PAH)基因第11、12外显子点突变。
- Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase (PAH) gene of the patients with phenylketonuria (PKU) in Xinjiang. 摘要目的分析新疆地区苯丙酮尿症(PKU)患者中苯丙氨酸羟化酶(PAH)基因第11、12外显子点突变。
- Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemi a: an international survey of the outcome of untreated and treated pregnancies . N Engl J Med 303:1202. 段爱军刘秋葵.;焦作地区苯丙酮尿症筛查结果分析
- Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia. 目的:研究内蒙古地区经典型苯丙酮尿症(PKU)苯丙氨酸羟化酶(PAH)基因突变的特点和频率,以提高该地区PKU的基因诊断率。
- Objective To establish a method with high efficiency in detecting phenylalanine hydroxylase(PAH) gene mutations and hence to rapidly diagnose prenatal fetals with phenylketonuria. 目的提高苯丙氨酸羟化酶基因突变的检出效率，快速对苯丙酮尿症患儿进行产前诊断。
- Objective To develop screening of phenylketonuria(PKU) in the newborns to decrease incidence of disability and raise quality of the population in our country. 目的开展新生儿苯丙酮尿症的筛查,降低残疾儿童的发生率,提高我国人口素质。方法用荧光法测定新生儿滤纸干血片上的苯丙氨酸浓度以筛查苯丙酮尿症。
