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单词
adenine phosphoribosyl transferase(APRT) deficiency
释义
adenine phosphoribosyl transferase(APRT) deficiency
腺嘌呤转磷酸核糖基酶缺乏:腺嘌呤补救酶APRT缺乏为一常染色体隐性遗传病,临床表现轻重不一,轻者可无症状,重者可因泌尿系结石(引起绞痛、血尿、尿路感染和尿难)以至发生急性肾衰竭和肾脏持久性损害
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更新时间:2025/9/4 16:43:53