短链酰基辅酶A脱氢酶缺乏症(Short-chain acyl-CoA dehydrogenase deficiency)分子诊断基因检测 短链酰基辅酶A脱氢酶缺乏症是一种罕见的遗传性代谢疾病,主要由于SCAD基因的突变导致短链脂肪酸代谢障碍。为了进行分子诊断基因检测,可以通过检测患者的DNA样本,特别是SCAD基因的序列,以确定是否存在突变。这种基因检测可以帮助医生...
Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme in the fatty acid oxidation process, is not only involved in ATP synthesis but also regulates the production of mitochondrial reactive oxygen species (ROS) and nitric oxide synthesis. The purpose of this study was to investigate the ...
Short-chain acyl-CoAdehydrogenasedeficiency (SCADD) is a disorder of mitochondrialfatty acid oxidationthat leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patients are now diagnosed throughnew...
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation. SCADD is biochemically characterized by increased C4-carnitine in plasma and ethylmalonic acid in urine. The diagnosis of SCADD is confirmed by DNA analysis showing SCAD...
Short-chainacyl-CoAdehydrogenasegenemutation (c.319C>T)presentswithclinicalheterogeneityandiscandidate foundermutationinindividualsofAshkenaziJewishorigin IngridTein a, * ,OrlyElpeleg b ,BruriaBen-Zeev c ,StanleyH.Korman b,d , AlexanderLossos e ,DoritLev f ,TallyLerman-Sagie f,g,h ,EstherLeshinsky...
产品名称 ACADSB Acyl-CoA Dehydrogenase, Short Chain Human Recombinant Protein 产品描述 ACADSB Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 424 amino acids (34-432) and having a molecular mass of 46.4kDa.ACADSB is fused to a 25 amino acid His-...
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms 文档格式: .pdf 文档大小: 645.73K 文档页数: 7页 顶/踩数: ...
Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid β-oxidation, plays an important role in cardiac hypertrophy. However, its effect on the cardiomyocyte apoptosis remains unknown. We aimed to determine the role of SCAD in tert-butyl hydroperoxide (tBHP)-induced cardiomyocyte ...
Short-chain acyl-coenzyme A dehydrogenase activity, anti- gen and biosynthesis are absent in the BALB/cByJ mouse. Pediatr Res 31:552-556, 1992.Amendt BA, Freneaux E, Reece C, Wood PA, Rhead WJ (1992) Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent...
Pediatric ResearchAmendt BA, Norbeck BA, Moon AM, Rhead WJ (1985) A new defect of β-oxidation: short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 19 : 309A.Amendt, B. A., Norbeck, B. A., Moon, A. M. and Rhead, W. J. A new defect of β -oxidation: short-chain ...