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- 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。
- inherited methylmalonic acidemia and homocystinuria 遗传性甲基丙二酸血症和高胱氨酸尿血症
- 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
- Keywords Methylmalonic acidemia;Derivation;Tandem mass spectrometry; 关键词甲基丙二酸尿症;衍生化;串联质谱;
- Keywords Methylmalonic acidemia Children Magnetic resonance imaging; 甲基丙二酸血症;儿童;磁共振成像;
- Rapid Detection of Methylmalonic Acidemia by Derivation and Electrospray Tandem Mass Spectrometry 衍生化电喷雾串联质谱法快速检测甲基丙二酸尿症
- Methylmalonic acidemia with initial symptom of coma: clinical analysis of 3 cases 以昏迷为首发症状的甲基丙二酸血症3例临床研究
- Keywords methylmalonic acidemia;brain injury;neuronal structure;brain function;brain development; 甲基丙二酸血症;脑损伤;脑神经结构;脑功能;脑发育;
- Keywords Methylmalonic acidemia Ketoacidosis coma Gas chromatography/mass spectrometry(GC/MS); 甲基丙二酸血症;酮症酸中毒昏迷;气相色谱质谱检测;
- methylmalonic acidemia 甲基丙二酸血症
- How to Manage Lactic Acidemia in HIV-Infected Patients? 如何处理HIV感染病人的乳酸血症?
- methylmalonic acidemias 甲基丙二酸血症
- 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。
- The relation between acidemia at birth and deficit in speech/language development should be further evaluated. 产时酸血症和以后的语言发育缺陷间关系需进一步估价。
- Acidemia is believed to be an important cause of bad prognosis and death in pateints with CRF. 酸血症是引起慢性肾衰竭患者预后不良和死亡的重要原因。
- The author puts stress on the observation of carbonic acidemia and hemorrhage in anterior skin of neck and chest. 强调观察患者有无严重的高碳酸血症及颈胸前部皮肤出血的重要性。
- Hypercholic acidemia is caused bY the interruption of enterohepatic circulation and deterioration of hepatic function after portasystemic shunt. 高胆酸血症主要为门体分流术后肝肠循环阻断和肝功能恶化所致。