These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. 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 Hum Mol Genet; 2004 Nov; 13(22):2803-11. PubMed ID: 15385440 [TBL] [Abstract][Full Text] [Related]
6. 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 Ann Neurol; 2005 Oct; 58(4):626-30. PubMed ID: 16037974 [TBL] [Abstract][Full Text] [Related]
7. D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? Struys EA; Verhoeven NM; Salomons GS; Berthelot J; Vianay-Saban C; Chabrier S; Thomas JA; Tsai AC; Gibson KM; Jakobs C Mol Genet Metab; 2006 May; 88(1):53-7. PubMed ID: 16442322 [TBL] [Abstract][Full Text] [Related]
8. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Penderis J; Calvin J; Abramson C; Jakobs C; Pettitt L; Binns MM; Verhoeven NM; O'Driscoll E; Platt SR; Mellersh CS J Med Genet; 2007 May; 44(5):334-40. PubMed ID: 17475916 [TBL] [Abstract][Full Text] [Related]
9. 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 Am J Hum Genet; 2005 Feb; 76(2):358-60. PubMed ID: 15609246 [TBL] [Abstract][Full Text] [Related]
10. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Faiyaz-Ul-Haque M; Al-Sayed MD; Faqeih E; Jamil M; Saeed A; Amoudi MS; Kaya N; Abalkhail H; Al-Abdullatif A; Rashed M; Al-Owain M; Peltekova I; Zaidi SH Ann Saudi Med; 2014; 34(2):107-14. PubMed ID: 24894778 [TBL] [Abstract][Full Text] [Related]
11. D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders? Korman SH; Salomons GS; Gutman A; Brooks R; Jakobs C Neuropediatrics; 2004 Jun; 35(3):151-6. PubMed ID: 15248096 [TBL] [Abstract][Full Text] [Related]
12. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Rzem R; Van Schaftingen E; Veiga-da-Cunha M Biochimie; 2006 Jan; 88(1):113-6. PubMed ID: 16005139 [TBL] [Abstract][Full Text] [Related]
13. Atypical and variable clinical presentation of glutaric aciduria type I. Zafeiriou DI; Zschocke J; Augoustidou-Savvopoulou P; Mauromatis I; Sewell A; Kontopoulos E; Katzos G; Hoffmann GF Neuropediatrics; 2000 Dec; 31(6):303-6. PubMed ID: 11508549 [TBL] [Abstract][Full Text] [Related]
14. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Steenweg ME; Jakobs C; Errami A; van Dooren SJ; Adeva Bartolomé MT; Aerssens P; Augoustides-Savvapoulou P; Baric I; Baumann M; Bonafé L; Chabrol B; Clarke JT; Clayton P; Coker M; Cooper S; Falik-Zaccai T; Gorman M; Hahn A; Hasanoglu A; King MD; de Klerk HB; Korman SH; Lee C; Meldgaard Lund A; Mejaski-Bosnjak V; Pascual-Castroviejo I; Raadhyaksha A; Rootwelt T; Roubertie A; Ruiz-Falco ML; Scalais E; Schimmel U; Seijo-Martinez M; Suri M; Sykut-Cegielska J; Trefz FK; Uziel G; Valayannopoulos V; Vianey-Saban C; Vlaho S; Vodopiutz J; Wajner M; Walter J; Walter-Derbort C; Yapici Z; Zafeiriou DI; Spreeuwenberg MD; Celli J; den Dunnen JT; van der Knaap MS; Salomons GS Hum Mutat; 2010 Apr; 31(4):380-90. PubMed ID: 20052767 [TBL] [Abstract][Full Text] [Related]
15. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Barth PG; Hoffmann GF; Jaeken J; Lehnert W; Hanefeld F; van Gennip AH; Duran M; Valk J; Schutgens RB; Trefz FK Ann Neurol; 1992 Jul; 32(1):66-71. PubMed ID: 1642474 [TBL] [Abstract][Full Text] [Related]
16. L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. Van Schaftingen E; Rzem R; Veiga-da-Cunha M J Inherit Metab Dis; 2009 Apr; 32(2):135-42. PubMed ID: 19020988 [TBL] [Abstract][Full Text] [Related]
17. 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 Am J Med Genet; 1999 Sep; 86(2):124-9. PubMed ID: 10449646 [TBL] [Abstract][Full Text] [Related]
18. 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 BMC Med Genet; 2018 Sep; 19(1):167. PubMed ID: 30217188 [TBL] [Abstract][Full Text] [Related]
19. Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I. Ikeda H; Kimura T; Ikegami T; Kato M; Matsunaga A; Yokoyama S; Yamaguchi S; Ohura T; Hayasaka K Am J Med Genet; 1998 Dec; 80(4):327-9. PubMed ID: 9856558 [TBL] [Abstract][Full Text] [Related]
20. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. Struys EA J Inherit Metab Dis; 2006 Feb; 29(1):21-9. PubMed ID: 16601864 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]