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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2006 | 1 |
2010 | 1 |
2012 | 3 |
2013 | 1 |
2024 | 0 |
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6 results
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Page 1
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
Ann Clin Lab Sci. 2012 Winter;42(1):65-72.
Ann Clin Lab Sci. 2012.
PMID: 22371912
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.
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.
Item in Clipboard
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.
Proudfoot M, Jardine P, Straukiene A, Noad R, Parrish A, Ellard S, Weatherby S.
Proudfoot M, et al.
JIMD Rep. 2013;10:103-6. doi: 10.1007/8904_2012_210. Epub 2013 Feb 12.
JIMD Rep. 2013.
PMID: 23430810
Free PMC article.
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT.
Mills PB, et al.
Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19.
Nat Med. 2006.
PMID: 16491085
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Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G.
Schmitt B, et al.
Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29.
Dev Med Child Neurol. 2010.
PMID: 20370816
Free article.
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Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Coulter-Mackie MB, Li A, Lian Q, Struys E, Stockler S, Waters PJ.
Coulter-Mackie MB, et al.
Mol Genet Metab. 2012 Aug;106(4):478-81. doi: 10.1016/j.ymgme.2012.06.008. Epub 2012 Jun 22.
Mol Genet Metab. 2012.
PMID: 22784480
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