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。

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MRI and clinical manifestation in phenylketonuria

苯丙酮尿症的临床和MRI表现

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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。

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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。

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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

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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。

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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。

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MRI study on brain myelination in patients with phenylketonuria

苯丙酮尿症患者脑髓鞘化的MRI研究

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MRI research on brain in phenylketonuria

苯丙酮尿症的颅脑MRI研究

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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

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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。

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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

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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

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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。

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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。

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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

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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。

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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。

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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。

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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。

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