肉碱酰基转移酶缺乏是英文carnitine-acylcarnitine translocase deficiency的中文翻译。这一疾病又叫做CACT deficiency ;carnitine-acylcarnitine carrier deficiency ;carnitine acylcarnitine translocase deficiency;。该病是一种基...
先天性神经元蜡样脂褐质沉积症是英文congenital neuronal ceroid lipofuscinosis的中文翻译。这一疾病又叫做cathepsin D deficiency ;cathepsin D deficient neuronal ceroid lipofuscinosis cathepsin D ;CLN10 ;neuronal ceroid l...
半乳糖血症是英文galactosemia的中文翻译。这一疾病又叫做classic galactosemia epimerase deficiency galactosemia galactokinase deficiency disease galactose-1-phosphate uridyl-transferase deficiency disease galactose epimerase deficien...
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...
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