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Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. van Karnebeek CD, et al. Among authors: jakobs c. Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022070 Free article.
Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
Mercimek-Mahmutoglu S, Connolly MB, Poskitt KJ, Horvath GA, Lowry N, Salomons GS, Casey B, Sinclair G, Davis C, Jakobs C, Stockler-Ipsiroglu S. Mercimek-Mahmutoglu S, et al. Among authors: jakobs c. Mol Genet Metab. 2010 Dec;101(4):409-12. doi: 10.1016/j.ymgme.2010.08.016. Epub 2010 Aug 26. Mol Genet Metab. 2010. PMID: 20846889
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Among authors: jakobs c. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
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
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Mercimek-Mahmutoglu S, Muehl A, Salomons GS, Neophytou B, Moeslinger D, Struys E, Bodamer OA, Jakobs C, Stockler-Ipsiroglu S. Mercimek-Mahmutoglu S, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Apr;96(4):273-5. doi: 10.1016/j.ymgme.2008.12.020. Epub 2009 Feb 1. Mol Genet Metab. 2009. PMID: 19188083
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. Rosenberg EH, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Aug;97(4):312-4. doi: 10.1016/j.ymgme.2009.05.002. Epub 2009 May 13. Mol Genet Metab. 2009. PMID: 19501531
577 results