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pyruvate carboxylase (PC) deficiency
释义
pyruvate carboxylase (PC) deficiency
丙酮酸羧化酶缺乏:一种与PC有关的常染色体隐性遗传病。该酶催化CO2固定。该症的特征为乳酸性酸中毒和极度精神运动性阻滞
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更新时间:2025/9/3 12:27:14