Objectives To summary the clinical characteristic of l ate onset methylmalonic aciduria (MMA). 目的 总结晚发型甲基丙二酸尿症(MMA)的临床特点。
Objective To explore the value of urease pretreatment-gas chromatography-mass spectrometry(UP-GC-MS) in the diagnosis and therapy of methylmalonic aciduria(MMA). 目的探讨尿素酶预处理-气相色谱-质谱法(UP-GC-MS)在甲基丙二酸尿症(MMA)诊断、治疗中的价值。