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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
