hyperphenylalaninemia相关论文
该文报道1例因发育落后及癫癎而诊断为母性苯丙酮尿症(phenylketonuria,PKU)的患儿。患儿男,1岁8个月时就诊,发育落后,1岁出现癫癎......
目的了解本地区的新生儿高苯丙氨酸血症(HPA)静脉血片筛查中的苯丙氨酸(Phe)水平分布,并探讨Phe切值建立。方法 2011年1月~2015年6......
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Spec
Hyperphenylalaninemia is one of the commonest inb errors of metabolism affecting approximately 1 in 15 000 live births. ......
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
目的 了解中国大陆6-丙酮酰四氢蝶呤合成酶缺乏症(6-pyruvoyltetrahydrobiopterinsynthesis deficiency,PTPSD)基因突变谱.方法 采......
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Spec
Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live birth......
目的 四氢生物喋呤缺乏症和苯丙酮尿症均可导致继发性癫痫，本研究拟探讨两类患者的临床与实验室特点。方法将两组患者出现癫痫的年......
A study on incidence of phenylketonuria (PKU) by neonatal screening was done in Shanghai. Twenty-one cases of PKU out of......
1病例介绍（1）病史：患儿男，1岁8个月时因发育落后，间断抽搐8个月就诊。患儿于1岁时发热40℃，出现惊厥发作，表现为双上肢抖动，耸肩，持续数秒缓......
Objectives Inborn errors of metabolism (IEM) has a diverse spectrum and different incidence in different countries, the ......
