苯丙酮尿症

云南苯丙氨酸羟化酶基因内（TCTA）n多态性及其在苯丙酮尿症诊断中的应用

Application of ( TCTA ) n polymorphism in PAH gene in PKU prenatal diagnosis in Yunnan

上海部分地区新生儿苯丙酮尿症筛查14年临床总结

14 years neonatal screening for PKU in partial area of Shanghai

苯丙酮尿症患者脑髓鞘化的MRI研究

MRI study on brain myelination in patients with phenylketonuria

苯丙酮尿症的临床和MRI表现

MRI and clinical manifestation in phenylketonuria

苯丙酮尿症的颅脑MRI研究

MRI research on brain in phenylketonuria

16例苯丙酮尿症PAH基因Exon7突变的检测

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

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。

Objective To explore new mutation in phenylalanine hydroxylase ( PAH ) gene .

内蒙古经典型苯丙酮尿症PAH基因外显子11突变的检测

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

河南省苯丙酮尿症（PKU）筛查及群体分布规律的研究

Screening and group distribute regularity of Phenylketonuria in Henan province

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。

Phenylalanine dehydrogenase ( EC 1.4.1.20 ) is employed for the determination of Phenylketonuria ( PKU ) in the clinic .

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。

Objective To observe the relationship between phenylalanine and brain delayed myelination in phenylketonuria ( PKU ) with MRI .

维吾尔族新生儿苯丙酮尿症（PKU）的筛查及诊断

Screening and Diagnosis of Neonatal Phenylketonuria in Uygur

PCR-STR和PCR-SSCP方法对苯丙酮尿症基因诊断的意义

Significance of gene diagnosis by PCR-STR and PCR-SSCP in phenylketonuria

PCR-SSCP分析法可有效地用于苯丙酮尿症的基因诊断。

This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria .

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。

Objective To describe the incidence of congenital hypothyroidism ( CH ) and phenylketonuria ( PKU ) in Maanshan city .

BDNF对治疗苯丙酮尿症脑损伤可能具有潜在的应用价值。

It suggested a potential neuroprotective action of BDNF in prevention and treatment of brain injury in the patients with phenylketonuria .

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。

Objective To obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase ( PAH ) gene .

应用非放射性的微型非变性聚丙烯凝胶电泳，对苯丙酮尿症病人的PAH基因Ex-on7的PCR扩增产物进行了单链构型多态性分析。

We applied PCR - single strand conformation polymorphism ( SSCP ) technique to Ex-on 7 of PAN gene from PKU patients on non-denaturing micro-polyacrylamide gel .

【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。

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

苯丙酮尿症杂合子高危人群基因型与生化表型相关性济南市高苯丙氨酸血症发病率调查及其临床表型、生化表型与治疗效果和脑部MRI特征的关系

Genotype and Phenotype Study in the Population of High Risk Phenylketonuria Heterozygotes The Neonatal Screening of Hyperphenylalaninemia in Jinan District & the Relation of HPA 's Clinic and Biochemical Characteristic with Therapertic Effect and MRI

恶性苯丙酮尿症T2WI与DTI的比较

Comparative T_2WI with DTI study in malignancy phenylketonuria

同时对4例苯丙酮尿症患儿尿也进行了GC-MS联用分析，主要异常峰鉴定为苯丙酮酸及苯乳酸。

We also analysed the urinary organic acids from four patients with phenylketonuria by GC-MS. The main abnormal peaks were identified as phenylpyruvic acid and phenyllactic acid .

目的：探讨苯丙酮尿症（PKU）患者PAH基因突变特点。

Objective : To study the mutations of phenylalanine hydroxylase ( PAH ) gene in phenylketonuria ( PKU ) patients .

[目的]了解菏泽市新生儿甲状腺功能低下症（CH）与苯丙酮尿症（PKU）发病率。

[ Objective ] To explore the morbidity of Congenital hypothyroidism ( CH ) and phenylketonuria ( PKU ) among newborn in Heze city .

目的：检测中国北方人中苯丙酮尿症（PKU）患者苯丙氨酸羟化酶（PAH）基因外显子6，12中的突变。

Objective : This study was to detect the mutation in exon 6 and 12 of PHA gene in Northern Chinese .

新生儿苯丙酮尿症的筛选方法用Guthrie细菌抑制法。

Methods The method of screen was applied by Guthrie bacterial inhibition .

【方法】运用荧光MGB探针实时PCR检测经典型苯丙酮尿症33例，一级亲属43例，正常对照30例。

Fluorescent MGB probe real time PCR technology was used to detect the mutant allele in 33 classic Phenylketonuria patients and 43 parents , 30 normal controls .

【目的】应用基因短片段重复序列（STR）对4例曾生育过经典型苯丙酮尿症（PKU）患儿的孕妇，在妊娠8～11周进行产前诊断。

Prenatal diagnosis was made for 4 women at 8 ~ 11 weeks pregnant who had given birth to phenylketonuria ( PKU ) babies .

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。

[ Objective ] To study the clinical epidemiological features of neonatal disease screening , namely congenital hypothyroidism ( CH ) and 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。

Objective To establish a simple , accurate and rapid method for screening of the mutant genes in phenylketonuria ( PKU ) .