Jakobs C - Search Results

1

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. Among authors: jakobs c. 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.

2

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Bok LA, Been JV, Struys EA, Jakobs C, Rijper EA, Willemsen MA. Bok LA, et al. Among authors: jakobs c. Eur J Pediatr. 2010 Mar;169(3):297-303. doi: 10.1007/s00431-009-1020-2. Epub 2009 Jul 9. Eur J Pediatr. 2010. PMID: 19588165

3

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.

Bok LA, Maurits NM, Willemsen MA, Jakobs C, Teune LK, Poll-The BT, de Coo IF, Toet MC, Hagebeuk EE, Brouwer OF, van der Hoeven JH, Sival DA. Bok LA, et al. Among authors: jakobs c. Epilepsia. 2010 Dec;51(12):2406-11. doi: 10.1111/j.1528-1167.2010.02747.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 20887371 Free article.

4

Roth spots in pyridoxine dependent epilepsy.

Bok LA, Halbertsma F, Kerkhoff F, Jakobs C, Duijsters C, Willemsen M. Bok LA, et al. Among authors: jakobs c. BMJ Case Rep. 2011 Aug 17;2011:bcr0520114209. doi: 10.1136/bcr.05.2011.4209. BMJ Case Rep. 2011. PMID: 22688935 Free PMC article.

5

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Bok LA, et al. Among authors: jakobs c. Arch Dis Child. 2007 Aug;92(8):687-9. doi: 10.1136/adc.2006.103192. Epub 2006 Nov 6. Arch Dis Child. 2007. PMID: 17088338 Free PMC article.

6

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C. Salomons GS, et al. Among authors: jakobs c. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

7

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: jakobs c. 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.

8

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

Kaczorowska M, Kmiec T, Jakobs C, Kacinski M, Kroczka S, Salomons GS, Struys EA, Jozwiak S. Kaczorowska M, et al. Among authors: jakobs c. J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14. J Child Neurol. 2008. PMID: 18854520

9

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: jakobs c. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

10

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 2012 Sep;35(5):909-16. doi: 10.1007/s10545-011-9443-0. Epub 2012 Jan 17. J Inherit Metab Dis. 2012. PMID: 22249334 Free PMC article.

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