Inherited deficiency of pyruvate kinase, a key glycolytic enzyme, causes ATP deficiency, which leads to reduced RBC life span and hemolytic anemia.
糖酵解的关键酶——丙酮酸激酶,如果它有遗传缺陷,就导致会atp缺乏、红细胞寿命缩短和溶血性贫血。
Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme a mutase or its cofactor adenosylcobalamin.
甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。
Gaucher disease is an inherited disorder that is caused by a deficiency in an enzyme called glucocerebrosidase.
戈谢病是一种遗传性疾病,是由缺乏一种名为葡萄糖脑苷脂酶的酶引起的。
An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose.
半乳糖症一种遗传的代谢紊乱,因缺乏对半乳糖新陈代谢所必需的酶引起。
An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose.
半乳糖症一种遗传的代谢紊乱,因缺乏对半乳糖新陈代谢所必需的酶引起。
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