婴儿神经元蜡样质脂褐质沉积症是英文infantile neuronal ceroid lipofuscinosis的中文翻译。这一疾病又叫做CLN1;infantile Batten disease;neuronal ceroid lipofuscinosis 1;neuronal ceroid lipofuscinosis, infantile;Santavuo...
赖氨酸尿性蛋白耐受不良是英文lysinuric protein intolerance的中文翻译。这一疾病又叫做Congenital lysinuria;Hyperdibasic aminoaciduria;LPI;LPI - Lysinuric protein intolerance;赖氨酸尿性蛋白耐受不良;赖氨酸尿性...
先天性蔗糖酶-异麦芽糖酶缺乏症是英文congenital sucrase-isomaltase deficiency的中文翻译。这一疾病又叫做congenital sucrose intolerance ;congenital sucrose-isomaltose malabsorption ;CSID ;disaccharide intolerance I ;...
胍基乙酸甲基转移酶缺乏症是英文guanidinoacetate methyltransferase deficiency的中文翻译。这一疾病又叫做creatine deficiency syndrome due to GAMT deficiency deficiency of guanidinoacetate methyltransferase GAMT deficiency;。该...
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