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References

These sources were used to develop the Genetics Home Reference gene summary on the L2HGDH gene.

Entrez Gene
Goffette SM, Duprez TP, Nassogne MC, Vincent MF, Jakobs C, Sindic CJ. L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol. 2006 May;13(5):499-504. PubMed citation
OMIM: L-2-HYDROXYGLUTARATE DEHYDROGENASE
Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie. 2006 Jan;88(1):113-6. Epub 2005 Jun 23. PubMed citation
Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanli G, Yalnizoğlu D, Kesimer M, Coşkun T. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 2005 Jan-Mar;47(1):1-7. PubMed citation
Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004 Nov 15;13(22):2803-11. Epub 2004 Sep 22. PubMed citation
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005 Oct;26(4):395-6. PubMed citation

Reviewed: November 2007

Published: June 17, 2013