phenylketonuria的例句大全

A polymorphic tetranucleotide short tandem repeat ( STR) sequence in intron 3 of the phenylalanine hydroxylase ( PAH) gene was analysed in 52 normal individuals and 23 Phenylketonuria ( PKU) families by PCR amplification and silver staining.

应用PCR结合银染显色法分析了苯丙氨酸羟化酶基因内含子3中1个四核苷酸（TCTA）重复序列的多态性。

MRI and clinical manifestation in phenylketonuria

苯丙酮尿症的临床和MRI表现

The behavioral and emotional problems of patients with phenylketonuria early treated with dietotherapy Conclusions Good nutritional education and dietotherapy might improve the QOL and nutrition status in diabetics.

饮食治疗的苯丙酮尿症精神行为问题结论加强营养知识的普及、重视合理营养和膳食结构的具体指导，将有助于改善糖尿病患者的营养状况和生存质量。

Objective Tetrahydrobiopterin ( BH4) is known to normalize blood phenylalanine levels in BH4 deficiency, but not in phenylketonuria ( PKU).

目的四氢生物蝶呤（BH4）可以使BH4缺乏症病人的血液苯丙氨酸水平正常化，但是对苯丙酮酸尿症（PKU）病人无效。

Mutations in Exon 7 of the Phenylalanine Hydroxylase ( PAH) Gene in Chinese Patients with Phenylketonuria

苯丙氨酸羟化酶（PAH）基因外显子7及其两侧内含子的突变研究

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。

The comparison of ABR changes at the beginning of therapy against congenital hypothyroidism and phenylketonuria and later could serve as an objective criteria for follow-up of therapeutic efficiency.

先天性甲状腺功能低下及苯丙酮尿症的治疗早晚的ABR对比观察，可作为疗效随访和追踪观察的客观指标。

MRI study on brain myelination in patients with phenylketonuria

苯丙酮尿症患者脑髓鞘化的MRI研究

MRI research on brain in phenylketonuria

苯丙酮尿症的颅脑MRI研究

Determination of exon 7 mutation in PAH gene of 16 cases of phenylketonuria

16例苯丙酮尿症PAH基因Exon7突变的检测

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（Phenylalanine hydroxylase，PAH）基因新的突变位点。

Detection of exon 11 mutation in PAH gene of classical phenylketonuria in Inner Mongolia

内蒙古经典型苯丙酮尿症PAH基因外显子11突变的检测

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

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（Phenylalanine dehydrogenase，EC1.4.1.20，简称PheDH）是临床苯丙酮尿症的检测用酶。

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。

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

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。

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。

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（Phenylalanine hydroxylase，PAH）基因第12外显子点突变种类和频率。

To develop a fluorescent MGB probe real time PCR platform for detection the mutation of phenylalanine hydroxylase gene in patients with phenylketonuria.

【目的】探讨荧光MGB探针实时PCR技术检测经典型苯丙酮尿症的基因突变。