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......

Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live birth......

Objectives Inborn errors of metabolism (IEM) has a diverse spectrum and different incidence in different countries, the ......