...甲基丙二酸血症(methylmalonic acidemia,MMA)是一种常染色体隐性遗传的有机酸代谢障碍中较常见的疾病,可致多系统器官受累,可于婴儿甚至新生儿期发病,表现为喂养困难、反复...
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目的总结维生素B12反应型甲基丙二酸血症(methylmalonic acidemia,MMA)患儿脑干听觉诱发电位的(BAEP)特点。方法选择已确诊的MMA患儿15例进行BAE .
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... argininosuccinic acidemia 精氨基琥珀酸血(症) methylmalonic acidemia 甲基丙二酸血(症) glutaric acidemia 戊二酸血(症) ...
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Methylmalonic acidemia with homocystinuria 甲基丙二酸血症伴合并高胱氨酸尿症
Vitamin B12-unresponsive methylmalonic acidemia 维生素B12不反应型甲基丙二酸血症
inherited methylmalonic acidemia and homocystinuria 遗传性甲基丙二酸血症和高胱氨酸尿血症
Objective Methylmalonic acidemia (MMA) is one of the most common disorders of congenital organic acid metabolism.
目的探讨甲基丙二酸血症(MMA)的临床特征和治疗方法。
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。
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