1.
Development and application of PCR-RFLP for detecting bovine citrullinemia and deficiency of uridine monophophate synthase
牛瓜氨酸血症、尿苷酸合酶缺乏症PCR-RFLP检测方法的建立及应用
2.
sulfite oxidase deficiency
亚硫酸氧化酶缺乏症
3.
17,20-desmolase deficiency
１７,２０－碳链酶缺乏症
4.
reductase deficiency
５α－还原酶缺乏症
5.
hydroxylase deficiency
１７α－羟化酶缺乏症
6.
21-hydroxylase deficiency
２１－羟化酶缺乏症
7.
18-oxylase deficiency
１８－氧化酶缺乏症
8.
Phenylketonuria is a condition in which phenylalanine to tyrosine conversion is diminished because the enzyme phenylalanine hydroxylaze is deficient.
苯丙酮酸尿症是一种由于苯丙氨酸羟化酶缺乏，苯丙氨酸转变成酪氨酸的过程被削弱的
9.
glucose-6-phosphate dehydrogenase deficiency
6-磷酸葡萄糖脱氢酶缺乏症
10.
congenital aprothrombinemia
先天性凝血酶原缺乏症
11.
Molecular Characterization of the Glucose-6-Phosphate Dehydrogenase Deficiency in the Han and Li Nationalities in Hainan, China;
海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症的分子鉴定
12.
Newborn screening and treatment of Glucose-6-phosphate dehydrogenase deficiency in Guangzhou
广州市125万新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查和防治
13.
adenylosuccinate synthetase
腺苷酸基琥珀酸合成酶
14.
hydroxysteroid oxidoreductase deficiency
１７β－羟类固醇氧化还原酶缺乏症
15.
familial lipoprotein lipase deficiency
家族性脂蛋白脂酶缺乏症
16.
Molecular Genetic Analysis of Chinese Families with 21-Hydroxylase Deficiency;
21-羟化酶缺乏症家系的基因突变研究
17.
ATP synthetase system
腺苷三磷酸合成酶系
18.
Effect of Lacking D-glucose-1-phosphate Thymidylyltransferase on Mycobacterial Growth and Cell Morphology;
缺乏D-葡萄糖-1-磷酸胸苷转移酶对分枝杆菌生长和细胞形态的影响