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methylenetetrahydrofolate (THF) reductase deficiency
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methylenetetrahydrofolate (THF) reductase deficiency
亚甲基四氢叶酸还原酶缺乏症:为叶酸代谢的最常见遗传性氨基酸病症;其主要生化改变是出现血浆甲硫氨酸水平不增高的高胱氨酸尿;临床症象主要是中枢神经系统损害
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更新时间:2025/5/25 1:37:50