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中文Beta-Ureidopropionase Deficiency (UPB1D)
Alias:
Deficiency of Beta-Ureidopropionase
Beta-Alanine Synthase Deficiency
Upb1d
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β-尿苷丙酮酸酶缺乏症，又称β-尿苷丙酮酸酶缺乏症，与β-氨基异丁酸尿症和低张力有关。与β-尿苷丙酮酸酶缺乏症相关的重要基因是UPB1（β-尿苷丙酮酸酶1）。相关组织包括大脑和阑尾，相关表型为全球发育延迟和智力障碍
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MALACARDS
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