These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Struys EA; Salomons GS; Achouri Y; Van Schaftingen E; Grosso S; Craigen WJ; Verhoeven NM; Jakobs C Am J Hum Genet; 2005 Feb; 76(2):358-60. PubMed ID: 15609246 [TBL] [Abstract][Full Text] [Related]
7. L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. Jansen GA; Wanders RJ Biochim Biophys Acta; 1993 Nov; 1225(1):53-6. PubMed ID: 8241290 [TBL] [Abstract][Full Text] [Related]
8. L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. Van Schaftingen E; Rzem R; Veiga-da-Cunha M J Inherit Metab Dis; 2009 Apr; 32(2):135-42. PubMed ID: 19020988 [TBL] [Abstract][Full Text] [Related]
9. [L-2-hydroxyglutaric aciduria, an error of metabolism]. Van Schaftingen E Bull Mem Acad R Med Belg; 2007; 162(10-12):451-6; discussion 456-7. PubMed ID: 18557388 [TBL] [Abstract][Full Text] [Related]
10. Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. Wickenhagen WV; Salomons GS; Gibson KM; Jakobs C; Struys EA J Inherit Metab Dis; 2009 Apr; 32(2):264-8. PubMed ID: 19283509 [TBL] [Abstract][Full Text] [Related]
12. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. Rzem R; Achouri Y; Marbaix E; Schakman O; Wiame E; Marie S; Gailly P; Vincent MF; Veiga-da-Cunha M; Van Schaftingen E PLoS One; 2015; 10(3):e0119540. PubMed ID: 25763823 [TBL] [Abstract][Full Text] [Related]
13. L-2-hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders. Rakheja D J Pediatr Hematol Oncol; 2010 Mar; 32(2):169-70. PubMed ID: 20168250 [No Abstract] [Full Text] [Related]
14. Alpha-ketoglutarate is the precursor of L-2-hydroxyglutarate. Brunengraber H J Inherit Metab Dis; 2007 Oct; 30(5):628. PubMed ID: 17891475 [No Abstract] [Full Text] [Related]
15. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Topçu M; Jobard F; Halliez S; Coskun T; Yalçinkayal C; Gerceker FO; Wanders RJ; Prud'homme JF; Lathrop M; Ozguc M; Fischer J Hum Mol Genet; 2004 Nov; 13(22):2803-11. PubMed ID: 15385440 [TBL] [Abstract][Full Text] [Related]
16. L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia. Marcel C; Mallaret M; Lagha-Boukbiza O; Kremer S; Echaniz-Laguna A; Tranchant C Rev Neurol (Paris); 2012 Feb; 168(2):187-91. PubMed ID: 22030381 [TBL] [Abstract][Full Text] [Related]
17. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. Struys EA J Inherit Metab Dis; 2006 Feb; 29(1):21-9. PubMed ID: 16601864 [TBL] [Abstract][Full Text] [Related]