phenylketonuria

1. The blond hair and blue eyes combination is also often seen in patients affected by phenylketonuria, where phenylalanine builds up in the body.
   金发和碧眼的组合在苯丙酮酸尿症患者中是常见的，这些患者体内的苯基丙氨酸积累过多。
2. 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
3. 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
4. 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
5. 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
6. It suggested a potential neuroprotective action of BDNF in prevention and treatment of brain injury in the patients with phenylketonuria.
   BDNF对治疗苯丙酮尿症脑损伤可能具有潜在的应用价值。
7. Other trace elements have been observed with phenylketonuria, an inherited metabolic disorder, and kwashiorkor, a severe form of malnutrition that occurs mainly in developing nations.
   在苯丙酮尿症和恶性营养不良（一种主要发生在发展中国家的严重营养不良）患者的毛发中，也观察到了其它种微量元素。
8. Newborn Phenylketonuria in Hebei Province: An analysis of screening results from 2000 to 2008
   2000&2008年河北省新生儿苯丙酮尿症筛查结果分析
9. Borsi Batki suffers from phenylketonuria ( PKU), a metabolic disorder that if undetected, can lead to problems with brain development, progressive mental retardation, brain damage and seizures.
   她患有苯丙酮酸尿症，这是一种先天性代谢异常病，会影响大脑发育、损伤脑部神经和损害智力。
10. Design of Phenylketonuria Fluorescence Detection Optical System
    苯丙酮尿症荧光检测光学系统的设计
11. 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。
12. 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
13. 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。
14. Objective To explore new mutation in phenylalanine hydroxylase ( PAH) gene.
    目的检测中国苯丙酮尿症（phenylketonuria，PKU）患者苯丙氨酸羟化酶（Phenylalaninehydroxylase，PAH）基因新的突变位点。
15. Objective To compare two methods [ bacterial inhibition assay ( BIA) and fluorometric method] of phenylketonuria ( PKU) screening for newborn.
    目的比较筛查新生儿苯丙酮尿症（PKU）的2种检测苯丙氨酸（Phe）的方法&细菌抑制法（BIA）和荧光法。
16. Objective: To study the mutations of phenylalanine hydroxylase ( PAH) gene in phenylketonuria ( PKU) patients.
    目的：探讨苯丙酮尿症（PKU）患者PAH基因突变特点。
17. Significance of gene diagnosis by PCR-STR and PCR-SSCP in phenylketonuria
    PCR-STR和PCR-SSCP方法对苯丙酮尿症基因诊断的意义
18. 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。
19. 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。
20. Phenylalanine dehydrogenase ( EC 1.4.1.20) is employed for the determination of Phenylketonuria ( PKU) in the clinic.
    苯丙氨酸脱氢酶（Phenylalaninedehydrogenase，EC1.4.1.20，简称PheDH）是临床苯丙酮尿症的检测用酶。
21. MRI and clinical manifestation in phenylketonuria
    苯丙酮尿症的临床和MRI表现
22. This method is suited for identifying errors of amino acid metabolism and phenylketonuria in particular.
    是筛查氨基酸代谢病尤其筛查苯丙酮尿症的准确而简便的方法。
23. Objective To obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase ( PAH) gene.
    目的了解中国人苯丙酮尿症（phenylketonuria，PKU）患者的苯丙氨酸羟化酶（Phenylalaninehydroxylase，PAH）基因第12外显子点突变种类和频率。
24. Objective To observe the relationship between phenylalanine and brain delayed myelination in phenylketonuria ( PKU) with MRI.
    目的应用MRI观察苯丙酮尿症（PKU）患儿脑髓鞘发育延迟与血苯丙氨酸（PHE）浓度的关系。
25. Objective To establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria ( PKU).
    目的建立一种简便、准确和快速的筛查苯丙酮尿症（PKU）突变基因的方法。
26. Objective To study the method for gene diagnosis of phenylketonuria ( PKU).
    1目的探讨苯丙酮尿症的基因诊断方法。
27. The short tandem repeats ( STR) in intron 3 of phenylalanine hydroxylase gene were analyzed in 22 phenylketonuria ( PKU) families by linkage analysis of amplified-fragment length polymorphism.
    采用苯丙氨酸羟化酶基因内短串联重复序列扩增片段长度多态性连锁分析法，对22个苯丙酮尿症（PKU）家系进行了分析。
28. [ 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。
29. This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.
    PCR-SSCP分析法可有效地用于苯丙酮尿症的基因诊断。
30. Prenatal Gene Diagnosis and Synthetic Analysis in High Risk Phenylketonuria
    高危苯丙酮尿症胎儿产前基因诊断的综合分析

noun

1. a genetic disorder of metabolism

   Synonym:    PKU