phenylketonuria

phenylketonuria

1. Analysis on EEG in 94 patients with phenylketonuria

94例苯丙酮尿症的脑电图分析

2. 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

3. According to the initial plasma phenylalanine levels, four of the 21 patients belonged to classical phenylketonuria (PKU), seven were mild PKU, and ten were mild HPA.

依照初始血浆苯丙胺酸浓度可将病患分组，在21个病患中，有4人属于典型苯酮尿症，7人为轻型苯酮尿症，另外10人则是轻型苯丙胺酸血症。

4. Keywords: Phenylketonuria, Amino acid, GC-CI-MS-SIM, Screening, Derivatization,

关键词:苯丙酮尿症,氨基酸,气相色谱质谱联用,筛查,衍生化

5. Keywords amino acids;phenylketonuria;reference values;

关键词氨基酸;苯丙酮尿症;参考值;

6. Keywords Phenylketonuria;Cut-off;Neonatal screening;Fluorometric assay;

关键词苯丙酮尿症;切值;新生儿筛查;荧光分析法;

7. Keywords Phenylketonuria;MR imaging;Brain white matter;Intelligence quotient;Child;

关键词苯丙酮尿症;磁共振成像;脑白质;智商;儿童;

8. Keywords phenylketonuria;fluorescence;Y type optical fibers assembly;ultraviolet LED;microplate;

关键词苯丙酮尿症;荧光;Y型光纤;紫外发光二极管;微孔板扫描;

9. Keywords phenylketonuria dietary management early intervention;

关键词苯丙酮尿症;饮食控制;早期干预;

10. Keywords High performance liquid chromatography;Phenylalanine;Tyrosine;Phenylketonuria;Neonatal screening;

关键词高效液相色谱法;苯丙氨酸;酪氨酸;苯丙酮尿症;新生儿筛查;

11. classic phenylketonuria

典型性苯丙酮酸尿

12. Classical phenylketonuria

典型的苯丙酮酸尿症

13. 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(一种先天性代谢失调)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。

14. 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

15. A study of phenylketonuria heterozygotes screening in married population of Tianjin area

天津地区已婚群体苯丙酮尿症杂合子筛查

16. Malignancy phenylketonuria

恶性苯丙酮尿症

17. Comparative T_2WI with DTI study in malignancy phenylketonuria

恶性苯丙酮尿症T_2WI与DTI的比较

18. 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。

19. Maternal teratogens that hae been reported in association with cleft lip and palate include alcohol, maternal phenylketonuria, hyperthermia, hydantoin, trimethadione, aminopterin, and methotrexate.

据报道与唇腭裂相关的母体的致畸因素有酒精、母体的苯丙酮尿症、高热、乙内酰脲、三甲双酮、氨喋呤、氨甲蝶呤等。

20. Keywords newborn screening;phenylketonuria;chemistry fluorescence test;

新生儿筛查;苯丙酮尿症;化学荧光定量法;

21. Keywords Neonatal screening;Phenylketonuria;Fluorometric method;

新生儿筛查;苯丙酮尿症;荧光测定法;

22. Screening and follow - up of neonatal phenylketonuria

新生儿苯丙酮尿症的筛查和随访

23. Research on Fluorescence Detection System for Neonatal Phenylketonuria Screening

新生儿苯丙酮尿症荧光筛查系统的研究

24. 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。

25. Research on Enzyme-biosensor Detecting Phenylketonuria

检验苯丙酮尿症的酶生物传感器研究

26. 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.中国优生与遗传杂志,2000,8(2):34-35,.

27. maternal phenylketonuria

母体苯丙酮尿

28. dysmnorphism due to maternal phenylketonuria

母体苯丙酮尿症所致畸形

29. Application of Capillary Non-gel Sieving Electrophoresis to the Analysis of Short Tandem Repeat in Phenylalanine Hydroxylase Gene and Gene Diagnosis of Phenylketonuria

毛细管无胶筛分电泳在苯丙氨酸羟化酶基因短串联重复序列分析及苯丙酮尿症基因诊断中的应用

30. Study on mental retardation and brain delayed myelination of patients with phenylketonuria

治疗延迟的苯丙酮尿症患儿脑髓鞘发育延迟与智力发育的研究

31. Neonatal Screening Analysis for Congenital Hypothyroidism and Phenylketonuria in Human Province

湖南省新生儿先天性甲状腺功能减低症和苯丙酮尿症的筛查分析

32. 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。

33. Aim:To set up a method of prenatal diagnosis of classic phenylketonuria ( PKU) by linkage analysis of the short tandem repeat(STR) in intron 3 linked to the phenylalanine hydroxylase (PAH) gene.

目的:建立一种利用苯丙氨酸羟化酶(PAH)基因内含子3中短串联重复序列(STR)多态性连锁分析进行经典型苯丙酮尿症(PKU)产前诊断的方法。

34. 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。

35. 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。

36. 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。

37. 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。

38. 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。

39. 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。

40. 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。

41. transient phenylketonuria

短暂型苯丙酮酸尿

42. Study on Phe cut - off point of neonatal phenylketonuria screening in Fujian province

福建省新生儿苯丙酮尿症苯丙氨酸筛查切值的研究

43. classical type phenylketonuria

经典型苯丙酮尿症

44. Keywords classic phenylketonuria;prenatal diagnosis;linkage analysis;

经典型苯丙酮尿症;产前诊断;连锁分析;

45. Keywords classical type phenylketonuria;treatment in diet;trace element;heamoglobin;

经典型苯丙酮尿症;饮食治疗;微量元素;血红蛋白;

46. Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria

经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定

47. 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。

48. Keywords phenylalanine;high performance liquid chromatography;comparison;phenylketonuria;

苯丙氨酸;高效液相色谱法;比较;苯丙酮尿症;

49. phenylketonuria (PKU)

苯丙酮尿症

50. Keywords Phenylketonuria;Incidence;Differential Diagnosis;

苯丙酮尿症;发病率;鉴别诊断;

51. Keywords phenylketonuria;neonatal disease report;incidence rate;mental and physical capability development;

苯丙酮尿症;新生儿疾病筛查;发病率;智能体能发育;

52. Keywords Phenylketonuria;Neonatal screening;Fluorometric method;Bacterial inhibition assay;Quality evaluation;

苯丙酮尿症;新生儿疾病筛查;荧光法;细菌抑制法;质量评价;

53. Keywords Phenylketonuria;Neonatal screening;Incidence;Treatment;

苯丙酮尿症;新生儿筛查;发生率;治疗;

54. Keywords phenylketonuria;amino acids;phenylpyruvic acid;p hydroxyphenylacetic acid;derivation;GC/MS;

苯丙酮尿症;氨基酸;苯丙酮酸;对羟基苯乙酸;衍生化;GC/MS;

55. Keywords Phenylketonuria;Amino acids;HPLC;MS/MS;Screening;

苯丙酮尿症;氨基酸;高效液相色谱;串联质谱;筛查;

56. Keywords Phenylketonuria;Magnetic resonance imaging;Myelination;Blood phenylalanine;

苯丙酮尿症;磁共振成像;髓鞘;血苯丙氨酸浓度;

57. Keywords phenylketonuria;Brain damage;Child;

苯丙酮尿症;脑损伤;儿童;

58. Keywords phenylketonuria;phenylalanine hydroxylase;clone;prokaryotic expression plasmid;

苯丙酮尿症;苯丙氨酸羟化酶;克隆;原核表达质粒;

59. Correlation of Conventional Magnetic Resonance Imaging and Clinical Biochemistry of Brain Lesion in Children with Phenylketonuria

苯丙酮尿症儿童脑部磁共振成像与临床生化的相关性

60. 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。

61. Comparison of serum amino acid content before and after controlling pathogenetic condition in patients with phenylketonuria

苯丙酮尿症患者病情控制前后血清氨基酸含量比较

62. 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。

63. phenylketonuria screening

苯丙酮尿症筛查

64. Keywords phenylketonuria screening;ultraviolet LED;“Y”type fiber;fluorescence detection;embedded PC;

苯丙酮尿症筛查;紫外发光二极管;Y型光纤;荧光检测;嵌入式PC;

65. Phenylketonuria II

苯丙酮酸尿症Ⅱ

66. 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

67. 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病。

68. Phenylketonuria test

苯酮尿试验

69. Screening Analysis of Neonatal Congenital Hypothyroidism and Phenylketonuria in Lianyungang Area

连云港地区新生儿先天性甲状腺功能减低症及苯丙酮尿症筛查分析

70. atypieal phenylketonuria

非典型性苯丙酮尿症, 高苯丙氨酸血症V型

71. atypical phenylketonuria

非典型性苯丙酮酸尿

72. SCREENING MUTATIONS IN PHENYLKETONURIA BY MEANS OF NONRADIOACTIVE REVERSE DOT BLOT HYBRIDIZATION

非同位素逆相点杂交方法检测苯丙酮尿症突变基因

73. Determination of blood contents of calcium and trace elements in children with phenylketonuria on a low phenylalanine diet

饮食治疗苯丙酮尿症患儿全血钙及微量元素水平分析

74. 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

75. Comparative study on secondary seizure to tetrahydrobiopterin and phenylketonuria

高苯丙氨酸血症的抽搐机制研究