L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis o...
2-羟基戊二酸尿症(2-hydroxyglutaric aciduria,2-HGA)是一种表现为血、尿和脑脊液中2-羟基戊二酸(2-hydroxyglutaric acid,2-HG)含量增高的常染色体隐性遗传病。目前已知可引起该病的致病基因包括L2HGDH、D2HGDH、IDH1、IDH2和SLC25A1[,]。2-HGA病例极其罕见,国内外都未见有发病率的报道,国外报道的2-HGA约...
L-2-Hydroxyglutaric aciduria in two Palestinian siblings with a novel mutation in the L2HGDH gene 目的分析1个2-羟基戊二酸尿症家系致病基因突变情况,探讨可能引起发病的分子遗传学机制。方法提取该家系5名成员的外周血基因组DNA,应用PCR技术扩增L2HGDH、D2HGDH和SLC... I Dweikat,BA Libdeh,I Abu-Libde...
Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008] Amplicon Information Amplicon Length (bp) 127 NCBI mRNA ID NM_024884.3 NCBI Protein ID NP_079160.1 ...
Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008] Also known as: 2 hydroxyglutarate dehydrogenase; Alpha hydroxyglutarate oxidoreductase; Alpha ketoglutarate ...
Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA). It has 2 isoforms produced by alternative splicing with the molecular weight of 50 kDa and 48 kDa. L2HGDH also can be detected as ~45kD due to the 51aa transit peptide cleaved. 实验方案 Product Specific Protocols...
BackgroundL-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hydr...
Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. 关键字: Anti-L2HGDH Polyclonal Antibody;抗体 公司简介 北京索莱宝科技有限公司是一家集研发、生产、销售、服务于一体的高科技生物企业。技术推广...
Chanez Triki2, Faiza Fakhfakh1 and Tunisian Network on Mental Retardation study5,7 L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and...
Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. Additional Information Purification Method: Affinity purification Gene ID: 79944 Storage Buffer: Store at -20℃. Avoid freeze / thaw cycles....