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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: das am. JIMD Rep. 2014;15:1-11. doi: 10.1007/8904_2014_296. Epub 2014 Apr 19. JIMD Rep. 2014. PMID: 24748525 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: das am. 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.
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. 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
Correspondence (letter to the editor): Risk group includes infants.
Hartmann H, Das AM, Lücke T. Hartmann H, et al. Among authors: das am. Dtsch Arztebl Int. 2009 Apr;106(17):290-1; author reply 291. doi: 10.3238/arztebl.2009.0291. Epub 2009 Apr 24. Dtsch Arztebl Int. 2009. PMID: 19547633 Free PMC article. No abstract available.
Re: Honzik T, Adamovicova A, Smolka V, Magner M, Hruba E, Zeman J. Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned? Eur Jour Ped Neurol 14 (2010) 488-495.
Hartmann H, Das AM, Lücke T. Hartmann H, et al. Among authors: das am. Eur J Paediatr Neurol. 2011 Jul;15(4):377; author reply 378. doi: 10.1016/j.ejpn.2010.12.005. Epub 2011 Feb 3. Eur J Paediatr Neurol. 2011. PMID: 21295506 No abstract available.
Dietary Considerations in Tyrosinemia Type I.
van Spronsen FJ, van Rijn M, Meyer U, Das AM. van Spronsen FJ, et al. Among authors: das am. Adv Exp Med Biol. 2017;959:197-204. doi: 10.1007/978-3-319-55780-9_18. Adv Exp Med Biol. 2017. PMID: 28755197 Review.
256 results