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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
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ. Willemsen MA, et al. Among authors: klepper j. Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5. Eur J Hum Genet. 2017. PMID: 28378819 Free PMC article.
Hypoglycorrhachia: a simple clue, simply missed.
Willemsen MA, Verrips A, Verbeek MM, Voit T, Klepper J. Willemsen MA, et al. Among authors: klepper j. Ann Neurol. 2001 May;49(5):685-6. Ann Neurol. 2001. PMID: 11357965 No abstract available.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, V… See abstract for full author list ➔ Rice G, et al. Among authors: klepper j. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
GLUT1 deficiency syndrome in clinical practice.
Klepper J. Klepper J. Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres.2011.02.007. Epub 2011 Mar 5. Epilepsy Res. 2012. PMID: 21382692 Review.
96 results