BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 23022070)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
    Stockler S; Plecko B; Gospe SM; 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
    Mol Genet Metab; 2011; 104(1-2):48-60. PubMed ID: 21704546
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
    Kava MP; Bryant L; Rowe P; Lewis B; Greed L; Balasubramaniam S
    JIMD Rep; 2020 Jul; 54(1):9-15. PubMed ID: 32685344
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
    Coughlin CR; van Karnebeek CD; Al-Hertani W; Shuen AY; Jaggumantri S; Jack RM; Gaughan S; Burns C; Mirsky DM; Gallagher RC; Van Hove JL
    Mol Genet Metab; 2015; 116(1-2):35-43. PubMed ID: 26026794
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
    Mercimek-Mahmutoglu S; Cordeiro D; Cruz V; Hyland K; Struys EA; Kyriakopoulou L; Mamak E
    Eur J Paediatr Neurol; 2014 Nov; 18(6):741-6. PubMed ID: 25127453
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
    Struys EA; Bok LA; Emal D; Houterman S; Willemsen MA; Jakobs C
    J Inherit Metab Dis; 2012 Sep; 35(5):909-16. PubMed ID: 22249334
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
    Sadilkova K; Gospe SM; Hahn SH
    J Neurosci Methods; 2009 Oct; 184(1):136-41. PubMed ID: 19631689
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine.
    Yuzyuk T; Liu A; Thomas A; Wilson JE; De Biase I; Longo N; Pasquali M
    J Chromatogr B Analyt Technol Biomed Life Sci; 2016 Apr; 1017-1018():145-152. PubMed ID: 26970849
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
    Struys EA; Nota B; Bakkali A; Al Shahwan S; Salomons GS; Tabarki B
    Pediatrics; 2012 Dec; 130(6):e1716-9. PubMed ID: 23147983
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
    Mills PB; Footitt EJ; Mills KA; Tuschl K; Aylett S; Varadkar S; Hemingway C; Marlow N; Rennie J; Baxter P; Dulac O; Nabbout R; Craigen WJ; Schmitt B; Feillet F; Christensen E; De Lonlay P; Pike MG; Hughes MI; Struys EA; Jakobs C; Zuberi SM; Clayton PT
    Brain; 2010 Jul; 133(Pt 7):2148-59. PubMed ID: 20554659
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 54(2):239-48. PubMed ID: 23350806
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
    Oliveira R; Pereira C; Rodrigues F; Alfaite C; Garcia P; Robalo C; Fineza I; Gonçalves O; Struys E; Salomons G; Jakobs C; Diogo L
    Epileptic Disord; 2013 Dec; 15(4):400-6. PubMed ID: 24184718
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
    Jung S; Tran NT; Gospe SM; Hahn SH
    Mol Genet Metab; 2013 Nov; 110(3):237-40. PubMed ID: 23953072
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 92(8):687-9. PubMed ID: 17088338
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
    Bok LA; Maurits NM; Willemsen MA; Jakobs C; Teune LK; Poll-The BT; de Coo IF; Toet MC; Hagebeuk EE; Brouwer OF; van der Hoeven JH; Sival DA
    Epilepsia; 2010 Dec; 51(12):2406-11. PubMed ID: 20887371
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.