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Page 1
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
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.
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.
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.
98 results