1、

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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2、

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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3、

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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4、

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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5、

[ 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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7、

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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8、

[ 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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9、

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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10、

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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11、

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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12、

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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13、

a study of phenylketonuria heterozygotes screening in married population of tianjin area

天津地区已婚群体苯丙酮尿症杂合子筛查

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14、

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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15、

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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16、

Brain Damage in Children With Dietetically Treated Phenylketonuria

饮食治疗的苯丙酮尿症儿童脑损伤

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