PubMed (cited) for id: 609186

Year	Number of Results
1993	1
2004	2
2005	3
2010	1
2019	1
2024	0

1

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Pop A, Struys EA, Jansen EEW, Fernandez MR, Kanhai WA, van Dooren SJM, Ozturk S, van Oostendorp J, Lennertz P, Kranendijk M, van der Knaap MS, Gibson KM, van Schaftingen E, Salomons GS. Pop A, et al. Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30908763 Free PMC article.

2

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. Kranendijk M, et al. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186. Hum Mutat. 2010. PMID: 20020533

3

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW. Misra VK, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):200-5. doi: 10.1016/j.ymgme.2005.06.005. Epub 2005 Aug 2. Mol Genet Metab. 2005. PMID: 16081310

4

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974

5

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Struys EA, et al. Am J Hum Genet. 2005 Feb;76(2):358-60. doi: 10.1086/427890. Epub 2004 Dec 17. Am J Hum Genet. 2005. PMID: 15609246 Free PMC article.

6

Identification of a dehydrogenase acting on D-2-hydroxyglutarate.

Achouri Y, Noël G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E. Achouri Y, et al. Biochem J. 2004 Jul 1;381(Pt 1):35-42. doi: 10.1042/BJ20031933. Biochem J. 2004. PMID: 15070399 Free PMC article.

7

D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

Gibson KM, Craigen W, Herman GE, Jakobs C. Gibson KM, et al. J Inherit Metab Dis. 1993;16(3):497-500. doi: 10.1007/BF00711664. J Inherit Metab Dis. 1993. PMID: 7609436 No abstract available.

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