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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. Steenweg ME, et al. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS. Mendes MI, et al. Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14. Hum Mutat. 2017. PMID: 28101991 Free PMC article.
Ethylmalonic encephalopathy: clinical and biochemical observations.
Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, Smet J, Triantafyllou P, Vargiami E, Tamiolaki M, Gombakis N, van Coster R, Sewell AC, Vianey-Saban C, Gregersen N. Zafeiriou DI, et al. Neuropediatrics. 2007 Apr;38(2):78-82. doi: 10.1055/s-2007-984447. Neuropediatrics. 2007. PMID: 17712735
[L-2-hydroxyglutaric aciduria: report on two cases].
Wagner S, Vianey-Saban C, Salomons GS, Schmitt E, Feillet F. Wagner S, et al. Arch Pediatr. 2014 Jan;21(1):78-85. doi: 10.1016/j.arcped.2013.10.017. Epub 2013 Dec 8. Arch Pediatr. 2014. PMID: 24321868 French.
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J. Cheillan D, et al. Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96. Orphanet J Rare Dis. 2012. PMID: 23234264 Free PMC article.
L-2-hydroxyglutaric aciduria: two further cases.
Divry P, Jakobs C, Vianey-Saban C, Gibson KM, Michelakakis H, Papadimitriou A, Divari R, Chabrol B, Cournelle MA, Livet MO. Divry P, et al. J Inherit Metab Dis. 1993;16(3):505-7. doi: 10.1007/BF00711666. J Inherit Metab Dis. 1993. PMID: 7609438 No abstract available.
142 results