摘要 目的:初步明确3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-CoA carboxylase deficiency,MCCD)在石家庄地区新生儿中的患病率及基因变异特点。方法:采用串联质谱技术对石家庄...展开更多 Objective:To determine the prevalence of 3-methylcrotonyl-CoA carboxylase deficiency(MCCD)in neonates in Shijiazhuang City...