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A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria


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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. Kranendijk M Struys EA Salomons GS Van der KnaapMS Jakobs C Progress in understanding 2-hydroxyglutaric acidurias J Inherit Metab Dis 2012 354 571 58710.1007/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. 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 378 e00492 16 10.1128/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. Steenweg ME Jakobs C Errami A van DoorenSJ Adeva BartoloméMT Aerssens P et al An overview of L-2-hydroxyglutarate dehydrogenase gene (L2H-GDH) variants: A genotype-phenotype study Hum Mutat 2010 314 380 39010.1002/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-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 342 107 11410.5144/0256-4947.2014.107607486024894778Search 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. 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 1322 2803 281110.1093/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. Leiden Open Variation Database 2015 http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=L2HGDH Accessed 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. 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 2513 856 86510.1148/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. 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 6210 1882 188410.1212/01.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. 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 335 940 94310.3174/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. 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 392 119 12210.1055/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. Shim EH Sudarshan S Another small molecule in the oncometabolite mix: L-2-hydroxyglutarate in kidney cancer Oncoscience 2015 25 483 486 eCollection 201510.18632/oncoscience.165446833426097881Search in Google Scholar

eISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other