多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)是一种常见的脂肪酸氧化代谢紊乱,属常染色体隐性遗传,于1976年由Przyrembel等首次报道。 MADD是由于编码线粒体的电子转运黄素蛋白(ETF)α或β亚单位或电子转运黄素蛋白一泛醌氧化还原酶[ETF - QO],又称电子转运黄素蛋白脱氢酶(ETFDH)]...
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia or glutaric aciduria type II, can be caused by mutations in three different genes (ETFA, ETFB, ETFDH), which are all involved in electron transfer in the mitochondrial respiratory chain. In most patients MADD is...
中文多Acyl-CoA脱氢酶 英语 翻译Multiple Acyl-CoA Dehydrogenase MAD缩写是多Acyl-CoA脱氢酶的意思,MAD全写Multiple Acyl-CoA Dehydrogenase。 MAD缩写可能还有其它意思,请根据自身行业、属性核对选择MAD正确的英文缩写及全写。 参考资料: 1.百度翻译:多Acyl-CoA脱氢酶 2.有道翻译:多Acyl-CoA脱氢酶...
Multiple-Acyl-Coa-Dehydrogenase-Deficiency网络多乙酰辅酶A脱氢酶缺乏 网络释义 1. 多乙酰辅酶A脱氢酶缺乏 ... Mothers Against Drunk Drivers 反对酗酒司机的母亲; multiple acyl-CoA dehydrogenase deficiency 多乙酰辅酶A脱氢酶缺…www.iciba.com|基于1 个网页©...
Multiple Acyl-CoA-Dehydrogenase Deficiency (MADD): Use of Acylcarnitines and Fatty Acids to Monitor the Response to Dietary Treatment JOSÉ E. ABDENUR, NÉSTOR A. CHAMOLES, ANDREA B. SCHENONE, LÍA JORGE, ADOLFO GUINLE, CRISTINA BERNARD, VALERIY LEVANDOVSKIY, MARTA FUSTA, AND SILVANA LA...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive defect of the electron transfer flavoprotein or ubiquinone oxidoreductase, resulting in abnormal fatty acid, amino acid, and choline metabolism, leading to metabolic acidosis, hypoglycemia, "sweaty-feet" odor, and early neon...
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Assessement of three years of riboflavin treatment. Acta Paediatr. Scand. 77 (1986) 676–681Gregersen, N., Christensen, M.F., Christensen, E., and Kolvraa, S. (1986). Riboflavin responsive multiple acyl-CoA dehydrogenation ...
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts. Authors Ip, W C1 Hammond, J W Wilcken, B 1 NSW Biochemical Genetics Service, Royal...
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II, is an exceptionally rare autosomal recessive genetic disorder that disrupts the metabolism of fatty acids, amino acids, and choline. It presents with a wide range of clinical manifestations, from severe neonat...
multiple acyl‐CoA dehydrogenase deficiencypharmacokineticsD,Lydroxybutyrate (D,LB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl〤oA dehydrogenase deficiency (MADD; glutaric aciduria type II). We aimed to improve the understanding of ...