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- ATP酶缺乏症ATPase deficiency
- 四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床与基因研究Clinical and genetic analysis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
- 20-裂解酶缺乏症20-lyase deficiency
- 尿苷酸合酶缺乏症deficiency of uridine monophophate synthase
- 非典型性21-羟化酶缺乏症nonclassic 21 -hydroxylase deficiency (NCAH)
- 葡萄糖6磷酸脱氢酶缺乏症G6PD deficiency
- 6-磷酸葡萄塘脱氢酶缺乏症glucoe-6-phosphate dehydrogenase deficiency
- １１β－羟化酶缺乏症11β-hydroxylase deficiency
- ２１－羟化酶缺乏症21-hydroxylase deficiency
- ５α－还原酶缺乏症5α-reductase deficiency
- １７α－羟化酶缺乏症17α-hydroxylase deficiency
- ２０α－羟化酶缺乏症20α-hydroxylase deficiency
- １７，２０－碳链酶缺乏症17,20-desmolase deficiency
- 触酶缺乏症anenzymia catalasea
- 四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床和基因检测Clinical and gene detection of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
- ３β－羟类固醇脱氢酶缺乏症3β-hydroxysteroid dehydrogenase deficiency
- 烯醇酶缺乏症enolase deficiency
- 肝脂酶缺乏症hepatic lipase deficiency
- 肌肽酶缺乏症carnosinase deficiency
- 组氨酸酶缺乏症histidase deficiency
