This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012; 35(4): 571-587.KranendijkMStruysEASalomonsGSVan der KnaapMSJakobsCProgress in understanding 2-hydroxyglutaric acidurias201235457158710.1007/s10545-012-9462-5338826222391998Search in Google Scholar
Ma S, Sun R, Jiang B, Gao J, Deng W, Liu P, et al. L2hgdh deficiency accumulates l-2-hydroxyglutarate with progressive leukoencephalopathy and neurode-generation. Mol Cell Biol. 2017; 37(8). pii: e00492-16. doi: 10.1128/ MCB. 00492-16.MaSSunRJiangBGaoJDengWLiuPet alL2hgdh deficiency accumulates l-2-hydroxyglutarate with progressive leukoencephalopathy and neurode-generation2017378e004921610.1128/MCB.00492-16537663928137912Open DOISearch in Google Scholar
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2H-GDH) variants: A genotype-phenotype study. Hum Mutat. 2010; 31(4): 380-390.SteenwegMEJakobsCErramiAvan DoorenSJAdeva BartoloméMTAerssensPet alAn overview of L-2-hydroxyglutarate dehydrogenase gene (L2H-GDH) variants: A genotype-phenotype study201031438039010.1002/humu.2119720052767Search in Google Scholar
Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, Jamil M, Saeed A, Amoudi MS, et al. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med. 2014; 34(2): 107-114.Faiyaz-Ul-HaqueMAl-SayedMDFaqeihEJamilMSaeedAAmoudiMSet alClinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds201434210711410.5144/0256-4947.2014.107607486024894778Search in Google Scholar
Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, et al. L-2-hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004; 13(22): 2803-2811.TopcuMJobardFHalliezSCoskunTYalcinkayalCGercekerFOet alL-2-hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22.1200413222803281110.1093/hmg/ddh30015385440Search in Google Scholar
Leiden Open Variation Database, 2015. http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=L2HGDH Accessed 17 March 2015.2015http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=L2HGDHAccessed 17 March 2015Search in Google Scholar
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, et al. L-2-hydroxyglutaric aciduria: Pattern of MR imaging abnormalities in 56 patients. Radiology. 2009; 251(3): 856-865.SteenwegMESalomonsGSYapiciZUzielGScalaisEZafeiriouDIet alL-2-hydroxyglutaric aciduria: Pattern of MR imaging abnormalities in 56 patients2009251385686510.1148/radiol.251308064719474378Search in Google Scholar
Moroni I, Bugiani M, D’Incerti L, Maccagnano C, Rimoldi M, Bissola L, et al. L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? Neurology. 2004; 62(10): 1882-1884.MoroniIBugianiMD’IncertiLMaccagnanoCRimoldiMBissolaLet alL-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?200462101882188410.1212/01.WNL.0000125335.21381.87Search in Google Scholar
Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW. Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data. AJNR Am J Neuroradiol. 2012; 33(5): 940-943.PatayZMillsJCLöbelULambertASablauerAEllisonDWCerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data201233594094310.3174/ajnr.A2869796882522241392Search in Google Scholar
Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2H-GDH gene: Neuroimaging findings. Neuropediatrics. 2008; 39(2): 119-122.HalilogluGJobardFOguzKKAnlarBAkalanNCoskunTet alL-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2H-GDH gene: Neuroimaging findings200839211912210.1055/s-2008-108121718671189Search in Google Scholar
Shim EH, Sudarshan S. Another small molecule in the oncometabolite mix: L-2-hydroxyglutarate in kidney cancer. Oncoscience. 2015; 2(5): 483-486. eCollection 2015.ShimEHSudarshanSAnother small molecule in the oncometabolite mix: L-2-hydroxyglutarate in kidney cancer201525483486eCollection 201510.18632/oncoscience.165446833426097881Search in Google Scholar