嬰兒神經(jīng)元蠟樣質(zhì)脂褐質(zhì)沉積癥是英文infantile neuronal ceroid lipofuscinosis的中文翻譯。這一疾病又叫做CLN1;infantile Batten disease;neuronal ceroid lipofuscinosis 1;neuronal ceroid lipofuscinosis, infantile;Santavuo...
賴氨酸尿性蛋白耐受不良是英文lysinuric protein intolerance的中文翻譯。這一疾病又叫做Congenital lysinuria;Hyperdibasic aminoaciduria;LPI;LPI - Lysinuric protein intolerance;賴氨酸尿性蛋白耐受不良;賴氨酸尿性...
先天性蔗糖酶-異麥芽糖酶缺乏癥是英文congenital sucrase-isomaltase deficiency的中文翻譯。這一疾病又叫做congenital sucrose intolerance ;congenital sucrose-isomaltose malabsorption ;CSID ;disaccharide intolerance I ;...
胍基乙酸甲基轉(zhuǎn)移酶缺乏癥是英文guanidinoacetate methyltransferase deficiency的中文翻譯。這一疾病又叫做creatine deficiency syndrome due to GAMT deficiency deficiency of guanidinoacetate methyltransferase GAMT deficiency;。該...
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