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中文Acatalasemia (ACATLAS)
Alias:
Acatalasia
Catalase Deficiency
Deficiency of Catalase
Takahara's Disease
Takahara Disease
Acatlas
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无丙酮酸血症，又名无丙酮酸症，与肾上腺白质营养不良和新生儿肾上腺白质营养不良有关。与无丙酮酸血症相关的基因是CAT（过氧化氢酶），其相关通路/超通路包括细胞对刺激的反应和由NFE2L2介导的核事件。附属组织包括肝脏和T细胞，相关表型为过氧化氢酶水平降低和口腔溃疡
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MALACARDS
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