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argininosuccinate(ASA)synthetase(ASAS,ASS)deficiency
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argininosuccinate(ASA)synthetase(ASAS,ASS)deficiency
精氨〔基〕琥珀酸合成酶缺乏症:一种与尿素生物合成有关的遗传性氨酸病,临床类型有三:新生儿型、亚急型和迟发型。瓜氨酸血症为其特征性表现,并可能伴有血氨增高和乳清酸尿
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更新时间:2025/5/31 1:00:25