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- ATP酶缺乏癥ATPase deficiency
- 四氫生物蝶呤反應性苯丙氨酸羥化酶缺乏癥的臨床與基因研究Clinical and genetic analysis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
- 20-裂解酶缺乏癥20-lyase deficiency
- 尿苷酸合酶缺乏癥deficiency of uridine monophophate synthase
- 非典型性21-羥化酶缺乏癥nonclassic 21 -hydroxylase deficiency (NCAH)
- 葡萄糖6磷酸脫氫酶缺乏癥G6PD deficiency
- 6-磷酸葡萄塘脫氫酶缺乏癥glucoe-6-phosphate dehydrogenase deficiency
- １１β－羥化酶缺乏癥11β-hydroxylase deficiency
- ２１－羥化酶缺乏癥21-hydroxylase deficiency
- ５α－還原酶缺乏癥5α-reductase deficiency
- １７α－羥化酶缺乏癥17α-hydroxylase deficiency
- ２０α－羥化酶缺乏癥20α-hydroxylase deficiency
- １７，２０－碳鏈酶缺乏癥17,20-desmolase deficiency
- 觸酶缺乏癥anenzymia catalasea
- 四氫生物蝶呤反應性苯丙氨酸羥化酶缺乏癥的臨床和基因檢測Clinical and gene detection of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
- ３β－羥類(lèi)固醇脫氫酶缺乏癥3β-hydroxysteroid dehydrogenase deficiency
- 烯醇酶缺乏癥enolase deficiency
- 肝脂酶缺乏癥hepatic lipase deficiency
- 肌肽酶缺乏癥carnosinase deficiency
- 組氨酸酶缺乏癥histidase deficiency
