PubMed for id: 13376331

Year	Number of Results
1980	1
1993	2
2004	2
2014	1
2018	3
2020	1
2023	1
2024	0

1

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Bellad A, Holla VV, Kumari R, Kamble N, Yadav R, Pandey A, Pal PK, Muthusamy B. Bellad A, et al. Acta Neurol Belg. 2023 Dec;123(6):2315-2323. doi: 10.1007/s13760-023-02318-7. Epub 2023 Jun 28. Acta Neurol Belg. 2023. PMID: 37378753

2

MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome.

Qiu Z, Lin AP, Jiang S, Elkashef SM, Myers J, Srikantan S, Sasi B, Cao JZ, Godley LA, Rakheja D, Lyu Y, Zheng S, Madesh M, Shiio Y, Dahia PLM, Aguiar RCT. Qiu Z, et al. Cell Chem Biol. 2020 May 21;27(5):538-550.e7. doi: 10.1016/j.chembiol.2020.02.002. Epub 2020 Feb 25. Cell Chem Biol. 2020. PMID: 32101699 Free PMC article.

3

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.

Peng W, Ma XW, Yang X, Zhang WQ, Yan L, Wang YX, Liu X, Wang Y, Feng ZC. Peng W, et al. BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9. BMC Med Genet. 2018. PMID: 30217188 Free PMC article.

4

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Zhang Y, Wang C, Yang K, Wang S, Tian G, Chen Y. Zhang Y, et al. Neurol Sci. 2018 Oct;39(10):1697-1703. doi: 10.1007/s10072-018-3483-2. Epub 2018 Jul 6. Neurol Sci. 2018. PMID: 29980873 Review.

5

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Ullah MI, et al. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. BMC Med Genet. 2018. PMID: 29458334 Free PMC article.

6

Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. Vanderver A, et al. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24501781 Free Books & Documents. Review.

7

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.

8

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

9

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. Jansen GA, et al. Biochim Biophys Acta. 1993 Nov 25;1225(1):53-6. doi: 10.1016/0925-4439(93)90121-g. Biochim Biophys Acta. 1993. PMID: 8241290

10

L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. Duran M, et al. J Inherit Metab Dis. 1980;3(4):109-12. doi: 10.1007/BF02312543. J Inherit Metab Dis. 1980. PMID: 6787330

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