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2025

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1995 1
1996 1
1998 1
1999 1
2003 1
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2012 2
2014 1
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2019 1
2020 1
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Page 1
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys EA. Struys EA. J Inherit Metab Dis. 2006 Feb;29(1):21-9. doi: 10.1007/s10545-006-0317-9. J Inherit Metab Dis. 2006. PMID: 16601864 Review.
D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. ...
D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. ...
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutrope …
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglut …
2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature.
Geerts Y, Renier WO, Bakkeren J, de Jong J. Geerts Y, et al. J Neurol Sci. 1996 Nov;143(1-2):166-9. doi: 10.1016/s0022-510x(96)00179-7. J Neurol Sci. 1996. PMID: 8981317 Review.
We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. ...
We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental d …
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. J Inherit Metab Dis. 2012. PMID: 22391998 Free PMC article. Review.
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. ...
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and comb …
[D-2-hydroxyglutaric aciduria].
Takayanagi M, Ogawa A. Takayanagi M, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):389-91. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590078 Review. Japanese. No abstract available.
The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongation.
Molenaar RJ, Radivoyevitch T, Maciejewski JP, van Noorden CJ, Bleeker FE. Molenaar RJ, et al. Biochim Biophys Acta. 2014 Dec;1846(2):326-41. doi: 10.1016/j.bbcan.2014.05.004. Epub 2014 May 28. Biochim Biophys Acta. 2014. PMID: 24880135 Review.
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), chondrosarcoma, intrahepatic cholangiocarcinoma (ICC), and angioimmunoblastic T-cell lymphoma. They also cause D-2-hydroxyglut
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), cho …
Facial anomalies in D-2-hydroxyglutaric aciduria.
Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Amiel J, et al. Am J Med Genet. 1999 Sep 10;86(2):124-9. Am J Med Genet. 1999. PMID: 10449646 Review.
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. ...Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epi
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. .
13 results