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Long-term outcome in pyridoxine-dependent epilepsy.
Bok LA, Halbertsma FJ, Houterman S, Wevers RA, Vreeswijk C, Jakobs C, Struys E, Van Der Hoeven JH, Sival DA, Willemsen MA. Bok LA, et al. Dev Med Child Neurol. 2012 Sep;54(9):849-54. doi: 10.1111/j.1469-8749.2012.04347.x. Epub 2012 Jul 13. Dev Med Child Neurol. 2012. PMID: 22804844 Free article.
Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.
Been JV, Bok LA, Willemsen MA, Struys EA, Jakobs C. Been JV, et al. Among authors: bok la. Arq Neuropsiquiatr. 2008 Jun;66(2A):288; author reply 288-9. doi: 10.1590/s0004-282x2008000200035. Arq Neuropsiquiatr. 2008. PMID: 18545806 Free article. No abstract available.
Roth spots in pyridoxine dependent epilepsy.
Bok LA, Halbertsma F, Kerkhoff F, Jakobs C, Duijsters C, Willemsen M. Bok LA, et al. BMJ Case Rep. 2011 Aug 17;2011:bcr0520114209. doi: 10.1136/bcr.05.2011.4209. BMJ Case Rep. 2011. PMID: 22688935 Free PMC article.
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL. Engelke UF, et al. Among authors: bok la. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
59 results