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References

These sources were used to develop the Genetics Home Reference gene summary on the D2HGDH gene.

Entrez Gene
OMIM: D-2-HYDROXYGLUTARATE DEHYDROGENASE
Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol. 2005 Oct;58(4):626-30. PubMed citation
Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2):358-60. Epub 2004 Dec 17. PubMed citation
Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006 Feb;29(1):21-9. Review. PubMed citation

Reviewed: November 2007

Published: May 20, 2013