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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。
- 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
- argininosuccinic aciduria(argininosuccinuria) 精氨(基)琥珀酸尿
- arginosuccinic aciduria(argininosuccinuria) 精氨(基)琥珀酸尿
- Clinical and laboratory study of late onset methylmalo nic aciduria 晚发型甲基丙二酸尿症的临床和实验室研究
- 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 Organic aciduria;Acids/urine;Nervous system diseases/urine;Gas chromatography/mass spectrometry;GC/MS.; 有机酸尿症;酸类/尿;神经系统疾病/尿;气相色谱/质谱联用分析;
- 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;
- Keywords glutaric aciduria type 1;magnetic resonance image（MRI）;gas chromatography-mass spectrometry（GC-MS）;glutaric acid; 戊二酸尿症I型;气相色谱-质谱联用分析;磁共振成像（MRI）;戊二酸;
- beta hydroxyisovaleric aciduria β羟基异戊酸尿症
- beta-aminoisobutyric aciduria β-氨基异丁酸尿(症)
- acetoacetic aciduria 乙酰乙酸尿(症)
- methylmalonic aciduria 甲基丙二酸尿
- argininosuccinic aciduria 精氨基琥珀酸尿
