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homocarnosinosis
释义
homocarnosinosis
[həʊməʊkɑ:nəʊ'zi:nəʊsɪs]
[医]高肌肽病:一种遗传性氨基酸缺陷病,因高肌肽酶的缺乏使高肌肽积聚在脑脊液和脑内,而不在血浆或尿中。临床征象包括渐进性、痉挛性截瘫、智力衰退和视网膜色素沉着
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更新时间:2025/3/18 3:45:17