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- 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。
- methylmalonic aciduria combined with homocysteinemia 甲基丙二酸尿症
- Keywords inborn errors of metabolism;methylmalonic aciduria;urease pretreatment-gas chromatography-mass spectrometry; 遗传代谢病;甲基丙二酸尿症;尿素酶预处理-气相色谱-质谱法;
- Keywords methylmalonic aciduria hyperhomocystinemia multiple organs dysfunction vitamin B12 betaine; 甲基丙二酸尿症;同型半胱氨酸血症;多系统损害;钴胺素;甜菜碱;
- methylmalonic aciduria 甲基丙二酸尿
- At present,the underlying mechanisms of brain injury in methylmalonic acidemia have not yet fully established. 神经节苷脂和突触可塑性异常等脑神经发育损伤;
- 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。
- 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。
- Hereditary delta-aminolevulinic aciduria 遗传性δ-氨基乙酰丙酸尿
- Non-amino organic acidemia and aciduria 非氨有机酸血症和酸尿症
- alpha-Methylacetoacetic aciduria α-甲基乙酰乙酸尿症
- oligophrenia phenyl pyruvic aciduria 智力发育不全性苯丙酮尿症
- argi(ni)nosuccinic aciduria(argininosuccinuria) 精氨(基)琥珀酸尿
- inherited methylmalonic acidemia and homocystinuria 遗传性甲基丙二酸血症和高胱氨酸尿血症
- methyl-phosphinic methylmalonic acid 甲基丁二酸
- argininosuccinic aciduria(argininosuccinuria) 精氨(基)琥珀酸尿
- arginosuccinic aciduria(argininosuccinuria) 精氨(基)琥珀酸尿
- Diagnosis and treatment of methylmalonic acidemia in 14 cases 甲基丙二酸血症14例诊断及治疗分析
