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- 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
- 非典型性21-羟化酶缺乏症nonclassic 21 -hydroxylase deficiency (NCAH)
- BH4反应性苯丙氨酸羟化酶缺乏症BH4 responsive phenylalanine hydroxylase deficiency
- 11β-羟化酶缺乏11 beta-hydroxylase deficiency
- 四氢生物蝶呤负荷试验诊断四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床研究Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
- C-11羟化酶缺乏C11-hydroxylase deficiency
- 甾类11-β-羟化酶steroid-11-β-hydroxylase
- 肌磷酸化酶缺乏症myophosphatase deficiency
- 黄体酮11α-羟化酶Progesterone 11alpha-hydroxylase
- 丙酮酸羧化酶缺乏症pyruvate carboxylase deficiency
- 苯丙氨酸羟化酶phenylalanine hydroxylase
- 羟化酶hydroxylase
- 核苷磷酸化酶缺乏症nucleoside phosphorylase deficiency
- 脂羟化酶butyrinase
- 乙酰辅酶A羧化酶缺乏症acetyl-CoA carboxylase deficiency
- 17-羟化酶17-hydroxylase
- 21-羟化酶21-hydroxylase
- 3-甲基巴豆酰CoA羧化酶缺乏症3-methylcrotonyl CoA carboxylase deficiency
- 24-羟化酶24-hydroxylase
- 18-羟化皮质酮脱氢酶缺乏18-Hydroxycorticosterone dehydrogenase deficiency