3-MCC缺乏症的英文名字是3-MCC deficiency。基因解码表明:3-MCC缺乏症是一种遗传性代谢疾病,与基因突变密切相关。3-MCC缺乏症是由于3-MCC基因中的突变导致酶活性降低或有效丧失,从而影响了3-甲基丙酮酸羧化酶的功能。 3-MCC基因位于人类染色体3q27.1上,编码3-甲基丙酮酸羧化酶(3-MCC酶)。这种酶在氨基酸代谢...
3-MCC缺乏症的英文名字是3-MCC deficiency。基因解码表明:佳学基因采用基因解码表明,3-MCC缺乏症是由基因突变引起的。这种疾病是由于3-MCC基因中的突变导致酶3-甲基丙酮酸羧激酶的功能缺陷,从而影响了对3-甲基丙酮酸的代谢。这种基因突变可以是遗传的,通常是由父母传给子女的。
Forsyth, RaeLynn,Vockley,etc.Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System[J].2016,118(1).Forsyth R, Vockley CW, Edick M J, et al. Outcomes of cases with 3- methylcrotonyl-CoA carboxylase (3-...
High C 5OH milk concentrations provide a significant source of C 5OH to the nursing neonate and possibly explains its persistent elevation in the neonate, a commonly observed finding in maternal 3-MCC deficiency. 展开 关键词: Newborn screening 3-MCC deficiency 3-OH isovalerylcarnitine Carnitine...
2.Li N, Jiang X, Zhang R, et al.Discovery of Triazinone Derivatives as Novel, Specific, and Direct NLRP3 Inflammasome Inhibitors for the Treatment of DSS-Induced Ulcerative Colitis.Journal of Medicinal Chemistry.20233.Cao X, Di G, Bai Y, et al.Aquaporin5 Deficiency Aggravates ROS/NLRP3 ...
SIRT3 deficiency exacerbates ischemia-reperfusion injury: implication for aged hearts Am. J. Physiol. Heart Circ. Physiol., 306 (2014), pp. H1602-H1609 CrossrefView in ScopusGoogle Scholar [19] T. Chen, S.H. Dai, X. Li, P. Luo, J. Zhu, Y.H. Wang, et al. Sirt1-Sirt3 axis ...
Cannabinoid receptor 2 deficiency results in reduced neuroinflammation in an Alzheimer's disease mouse model Neurobiol. Aging (2015) L.L. Qiu et al. NADPH oxidase 2-derived reactive oxygen species in the hippocampus might contribute to microglial activation in postoperative cognitive dysfunction in aged...
Emory Metabolic Nutrition Symposium Frazier D - 3MCCD Emory Metabolic Nutrition Symposium 3-MCC Deficiency Frazier D - 3MCCDFrazier, Dianne M
石家庄地区3-甲基巴豆酰辅酶A羧化酶缺乏症患病率及MCCC1,MCCC2基因变异分析doi:10.12280/gjszjk.20220495Objective: To determine the prevalence of 3 -methylcrotonyl -CoA carboxylase deficiency (MCCD) in neonates in Shijiazhuang City, and to test the mutations of the related genes...
MCCC2基因基因变异全外显子组测序目的:对1例临床疑诊3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-coenzyme A carboxylase deficiency,MCCD )患儿及其父母进行基因变异分析,寻找该家系的致病变异,为临床诊断提供分子遗传学依据.方法:抽提先证者及其父母的外周血基因组DNA,应用全外显子组基因测序技术对疑似为MCCD疾...