phenylketonuria

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。

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

[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。

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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.

【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。

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Analysis on the Screening Results of Phenylketonuria and Congenital Hypothyroidism for Newborn in Heze from 2002 to 2005

2002～2005年菏泽市新生儿甲状腺功能低下症与苯丙酮尿症筛查结果分析

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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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Separating Amino Acids in Blood and Urine by Microcrystalline Cellulose Film Chromatography-To ldentify Phenylketonuria.

硝酸纤维素薄膜在骨骼的α辐射自显影术方面的应用.

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Screening and Diagnosis of Neonatal Phenylketonuria in Uygur

维吾尔族新生儿苯丙酮尿症（PKU）的筛查及诊断

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

【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。

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[ 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。

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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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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 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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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

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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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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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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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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.

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。

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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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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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Comparative T_2WI with DTI study in malignancy phenylketonuria

恶性苯丙酮尿症T2WI与DTI的比较

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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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MRI research on brain in phenylketonuria

苯丙酮尿症的颅脑MRI研究

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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。

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

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.

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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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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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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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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

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

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