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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
