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6-pyruvoyl tetrahydropterin synthase deficient form
释义
6-pyruvoyl tetrahydropterin synthase deficient form
6-丙酮酰四氢蝶呤合成酶缺乏型; 由于6-丙酮酰四氢蝶呤合成酶缺乏,使四氢生物蝶呤合成减少,导致高苯丙氨酸血症。
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更新时间:2025/11/16 2:56:42