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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: bok la. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: bok la. Mol Genet Metab. 2022 Apr;135(4):350-356. doi: 10.1016/j.ymgme.2022.02.005. Epub 2022 Feb 17. Mol Genet Metab. 2022. PMID: 35279367
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Among authors: bok la. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
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: bok la. 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.
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA. de Rooy RLP, et al. Among authors: bok la. Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30. Eur J Paediatr Neurol. 2018. PMID: 29661537
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.
Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR 2nd, Coenen MA, van Spronsen FJ, Williams M, de Vries MC, Westerlaan HE, Bok LA, van Karnebeek CDM, Lunsing RJ. Strijker M, et al. Among authors: bok la. Eur J Paediatr Neurol. 2021 Jul;33:112-120. doi: 10.1016/j.ejpn.2021.06.001. Epub 2021 Jun 7. Eur J Paediatr Neurol. 2021. PMID: 34153871 Free 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.
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H. van Karnebeek CD, et al. Among authors: bok la. JIMD Rep. 2014;15:1-11. doi: 10.1007/8904_2014_296. Epub 2014 Apr 19. JIMD Rep. 2014. PMID: 24748525 Free PMC article.
Callosal alterations in pyridoxine-dependent epilepsy.
Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DW, Willemsen MA, Bok LA, Gospe SM Jr. Friedman SD, et al. Among authors: bok la. Dev Med Child Neurol. 2014 Nov;56(11):1106-10. doi: 10.1111/dmcn.12511. Epub 2014 Jun 18. Dev Med Child Neurol. 2014. PMID: 24942048 Free article.
59 results