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。
Outcomes of cases with 3- methylcrotonyl-CoA carboxylase (3-MCC) deficiency-Report from the Inborn Errors of Metabolism Information System [J]. Mol Genet Metab,2016,118(1) :15-20.Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL and Inborn ...
MCC950 (CP-456773) 是NLRP3的选择性抑制剂,能够作用于BMDMs(IC50:7.5 nM) 和 HMDMs(IC50:8.1 nM)。 规格价格库存数量 2 mg ¥ 369 现货 5 mg ¥ 498 现货 10 mg ¥ 790 现货 25 mg ¥ 1,620 现货 50 mg ¥ 2,656 现货 100 mg ...
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...
•22 cases of 3-MCC deficiency diagnosed by NBS were followed through the Inborn Errors of Metabolism Information System•One infant had recurrent lactic acidosis with hyperammonemia, and another had acidosis with intercurrent illness.•Four cases (approximately 15%) had a developmental delay in ...
Emory Metabolic Nutrition Symposium Frazier D - 3MCCD Emory Metabolic Nutrition Symposium 3-MCC Deficiency Frazier D - 3MCCDFrazier, Dianne M
Objective: 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. Methods:185 683 neonates born in Shijiazhuang City were screened for MCCD by tandem mass spectrome...