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578 results

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Page 1
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Among authors: jakobs c. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. Steenweg ME, et al. Among authors: jakobs c. Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647. Radiology. 2009. PMID: 19474378
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. Among authors: jakobs c. 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.
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. Among authors: jakobs c. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974
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. Among authors: jakobs c. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Among authors: jakobs c. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: jakobs c. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16. Science. 2010. PMID: 20847235
578 results