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β-methylcrotonylglycinuria
释义
β-methylcrotonylglycinuria
β-甲基巴豆酰甘氨酸尿症:为常染色体隐性氨基酸病,由于甲基巴豆酰辅酶A羧化酶缺乏,尿中β-巴豆酸、β-甲基巴豆酰甘氨酸增多,患者智力迟钝、中枢神经功能障碍、肌萎缩
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更新时间:2025/5/28 11:27:35