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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Klepper J, et al. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913944 Free PMC article.
Autosomal dominant transmission of GLUT1 deficiency.
Klepper J, Willemsen M, Verrips A, Guertsen E, Herrmann R, Kutzick C, Flörcken A, Voit T. Klepper J, et al. Hum Mol Genet. 2001 Jan 1;10(1):63-8. doi: 10.1093/hmg/10.1.63. Hum Mol Genet. 2001. PMID: 11136715
Introduction of a ketogenic diet in young infants.
Klepper J, Leiendecker B, Bredahl R, Athanassopoulos S, Heinen F, Gertsen E, Flörcken A, Metz A, Voit T. Klepper J, et al. J Inherit Metab Dis. 2002 Oct;25(6):449-60. doi: 10.1023/a:1021238900470. J Inherit Metab Dis. 2002. PMID: 12555938
98 results