phenylketonuria

Use of new methods of rapid genotyping the model mice for phenylketonuria

快速鉴定苯丙酮尿症模型小鼠基因型的新方法应用

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

Design of Phenylketonuria Fluorescence Detection Optical System

苯丙酮尿症荧光检测光学系统的设计

Determination of Amino Acid of Blood Serum in Phenylketonuria Patient

苯丙酮尿症患者的血清氨基酸测定

Analysis on Neonatal Screening for Phenylketonuria in Fujian , China

福建省新生儿苯丙酮尿症筛查状况分析

Determination and analysis of trace elements for phenylketonuria infant in Changchun

长春地区苯丙酮尿症患儿微量元素检测分析

Objective To study the method for gene diagnosis of phenylketonuria ( PKU ) .

1目的探讨苯丙酮尿症的基因诊断方法。

Progress of Molecular Study and Correlation Analysis between Genotypes and Phenotypes in Phenylketonuria

苯酮尿症的分子研究及其基因型表型相关性的研究进展

Prenatal gene diagnosis of classical phenylketonuria in 16 pregnancies with high risk

16例经典型苯丙酮尿症的产前基因诊断

The therapeutic effects of low phenylalanine diet on the 26 patients with phenylketonuria

低苯丙氨酸饮食治疗26例苯丙酮尿症的疗效观察

Analysis on EEG in 94 patients with phenylketonuria

94例苯丙酮尿症的脑电图分析

The analysis of bacterial inhibition method to screen neonatal phenylketonuria in 12 912 infants

细菌抑制法筛查12912例新生儿苯丙酮尿症结果分析

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

Newborn Phenylketonuria in Hebei Province : An analysis of screening results from 2000 to 2008

2000&2008年河北省新生儿苯丙酮尿症筛查结果分析

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。

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

Reproductive damage and its prevention for women with phenylketonuria

妇女苯丙酮尿症的生殖健康危害及其预防

MRI study on brain myelination in patients with phenylketonuria

苯丙酮尿症患者脑髓鞘化的MRI研究

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

Malignant phenylketonuria presented with paroxysmal movement disorders : report of one case and review of the literature

以阵发性运动障碍为表现的恶性苯丙酮尿症1例及文献综述

Advances in the Studies of Molecular Heredity of Phenylketonuria

苯丙酮尿症分子遗传学研究进展

This method is suited for identifying errors of amino acid metabolism and phenylketonuria in particular .

是筛查氨基酸代谢病尤其筛查苯丙酮尿症的准确而简便的方法。

MRI research on brain in phenylketonuria

苯丙酮尿症的颅脑MRI研究

Maternal phenylketonuria : Report from the United Kingdom Registry 1978-97

孕妇苯丙酮尿症：源于1978～1997年在英国登记的报道

Capillary Electrophoresis of Aromatic Acids in Urine & Applied to the Diagnosis of Phenylketonuria

尿中微量芳香酸的高效毛细管电泳分析&用于苯丙酮酸尿症的诊断

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

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

Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients

127例PKU患者PAH基因第12外显子点突变及其频率研究

Frequency of five point mutations of phenylalanine hydroxylase and prenatal gene diagnosis of phenylketonuria

苯丙酮尿症突变基因分析和产前诊断

Study of phenylalanine hydroxylase gene mutations and correlation between phenylketonuria clinical severity and genotype

苯丙氨酸羟化酶基因突变分析及与临床严重度相关性的研究