PubMed (OMIM) for id: 79944

Year	Number of Results
1980	1
1992	1
1993	2
1999	1
2003	1
2004	3
2005	1
2007	1
2008	1
2009	2
2010	1
2011	1
2012	1
2017	1
2021	1
2024	0

1

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria.

Christen M, Janzen N, Fraser A, Sewell AC, Jagannathan V, Guevar J, Leeb T, Sanchez-Masian D. Christen M, et al. Genes (Basel). 2021 May 1;12(5):682. doi: 10.3390/genes12050682. Genes (Basel). 2021. PMID: 34062805 Free PMC article.

2

L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration.

Ma S, Sun R, Jiang B, Gao J, Deng W, Liu P, He R, Cui J, Ji M, Yi W, Yang P, Wu X, Xiong Y, Qiu Z, Ye D, Guan KL. Ma S, et al. Mol Cell Biol. 2017 Mar 31;37(8):e00492-16. doi: 10.1128/MCB.00492-16. Print 2017 Apr 15. Mol Cell Biol. 2017. PMID: 28137912 Free PMC article.

3

Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation.

Sühs KW, Erdmann P, Shamdeen MG, Papanagiotou P, Dillmann U. Sühs KW, et al. Neurology. 2012 Apr 10;78(15):1186-7. doi: 10.1212/WNL.0b013e31824f8033. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459673 No abstract available.

4

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992

5

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Vilarinho L, et al. J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911013

6

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.

Aghili M, Zahedi F, Rafiee E. Aghili M, et al. J Neurooncol. 2009 Jan;91(2):233-6. doi: 10.1007/s11060-008-9706-2. Epub 2008 Oct 18. J Neurooncol. 2009. PMID: 18931888 Review.

7

L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.

Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS. Penderis J, et al. J Med Genet. 2007 May;44(5):334-40. doi: 10.1136/jmg.2006.042507. J Med Genet. 2007. PMID: 17475916 Free PMC article.

8

L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.

Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M. Seijo-Martínez M, et al. Arch Neurol. 2005 Apr;62(4):666-70. doi: 10.1001/archneur.62.4.666. Arch Neurol. 2005. PMID: 15824270

9

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E. Rzem R, et al. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. doi: 10.1073/pnas.0404840101. Epub 2004 Nov 17. Proc Natl Acad Sci U S A. 2004. PMID: 15548604 Free PMC article.

10

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. Topçu M, et al. Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385440

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