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Journal Abstract Search

206 related items for PubMed ID: 15944906

  • 1. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
    Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S.
    Neuropediatrics; 2005 Jun; 36(3):200-5. PubMed ID: 15944906
    [Abstract] [Full Text] [Related]

  • 2. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
    Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, Jakobs C.
    Ann Neurol; 2000 Jul; 48(1):121-5. PubMed ID: 10894227
    [Abstract] [Full Text] [Related]

  • 3. Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
    Mercimek-Mahmutoglu S, Donner EJ, Siriwardena K.
    Mol Genet Metab; 2013 Jul; 110(1-2):197. PubMed ID: 23683770
    [No Abstract] [Full Text] [Related]

  • 4. [Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
    Xue J, Yang ZX, Li H, Qian P, Wu Y, Jiang YW, Liu XY.
    Zhonghua Er Ke Za Zhi; 2016 Aug; 54(8):592-6. PubMed ID: 27510871
    [Abstract] [Full Text] [Related]

  • 5. Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
    Plecko B, Hoeger H, Jakobs C, Struys E, Stromberger C, Leschnik M, Muehl A, Stoeckler-Ipsiroglu S.
    J Inherit Metab Dis; 2005 Aug; 28(5):689-93. PubMed ID: 16151899
    [Abstract] [Full Text] [Related]

  • 6. Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.
    Willemsen MA, Mavinkurve-Groothuis AM, Wevers RA, Rotteveel JJ, Jakobs C.
    Ann Neurol; 2005 Oct; 58(4):653. PubMed ID: 16178031
    [No Abstract] [Full Text] [Related]

  • 7. 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.
    Ann Neurol; 2009 May; 65(5):550-6. PubMed ID: 19142996
    [Abstract] [Full Text] [Related]

  • 8. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
    Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W.
    Hum Mutat; 2007 Jan; 28(1):19-26. PubMed ID: 17068770
    [Abstract] [Full Text] [Related]

  • 9. [Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
    Yang ZX, Qin J.
    Zhonghua Er Ke Za Zhi; 2013 Nov; 51(11):867-70. PubMed ID: 24484566
    [No Abstract] [Full Text] [Related]

  • 10. Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.
    Yuzyuk T, Thomas A, Viau K, Liu A, De Biase I, Botto LD, Pasquali M, Longo N.
    Mol Genet Metab; 2016 Jul; 118(3):167-172. PubMed ID: 27324284
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Dev Med Child Neurol; 2010 Jul; 52(7):e133-42. PubMed ID: 20370816
    [Abstract] [Full Text] [Related]

  • 12. 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, Das AM, Gospe SM, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S.
    Mol Genet Metab; 2012 Nov; 107(3):335-44. PubMed ID: 23022070
    [Abstract] [Full Text] [Related]

  • 13. Oral formulation of pyridoxine for the treatment of pyridoxinedependent epilepsy in a paediatric patient.
    Leganés-Ramos A, Álvaro-Alonso EA, Martín de Rosales-Cabrera AM, Pérez-Encinas M.
    Farm Hosp; 2016 Mar 01; 40(2):131-3. PubMed ID: 26980171
    [No Abstract] [Full Text] [Related]

  • 14. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
    Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, Wörle H, Plecko B.
    Neuropediatrics; 2008 Oct 01; 39(5):276-9. PubMed ID: 19294602
    [Abstract] [Full Text] [Related]

  • 15. Pyridoxine dependent seizures--a wider clinical spectrum.
    Bankier A, Turner M, Hopkins IJ.
    Arch Dis Child; 1983 Jun 01; 58(6):415-8. PubMed ID: 6859931
    [Abstract] [Full Text] [Related]

  • 16. A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings.
    Dogan M, Dogan DG, Kahraman AS, Ozcan O, Yakinci C, Alkan A.
    Eur Rev Med Pharmacol Sci; 2012 May 01; 16(5):695-8. PubMed ID: 22774414
    [Abstract] [Full Text] [Related]

  • 17. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
    Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C.
    Arch Dis Child; 2007 Aug 01; 92(8):687-9. PubMed ID: 17088338
    [Abstract] [Full Text] [Related]

  • 18. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
    Gospe SM.
    Curr Opin Neurol; 2006 Apr 01; 19(2):148-53. PubMed ID: 16538088
    [Abstract] [Full Text] [Related]

  • 19. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
    Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C.
    Epilepsia; 2013 Feb 01; 54(2):239-48. PubMed ID: 23350806
    [Abstract] [Full Text] [Related]

  • 20. A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation.
    Burd L, Stenehjem A, Franceschini LA, Kerbeshian J.
    J Child Neurol; 2000 Nov 01; 15(11):763-5. PubMed ID: 11108513
    [Abstract] [Full Text] [Related]

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