These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 27882480)

  • 1. Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
    Al Teneiji A; Bruun TU; Cordeiro D; Patel J; Inbar-Feigenberg M; Weiss S; Struys E; Mercimek-Mahmutoglu S
    Metab Brain Dis; 2017 Apr; 32(2):443-451. PubMed ID: 27882480
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
    Mahajnah M; Corderio D; Austin V; Herd S; Mutch C; Carter M; Struys E; Mercimek-Mahmutoglu S
    Pediatr Neurol; 2016 Jul; 60():60-5. PubMed ID: 27212567
    [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. 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]  

  • 7. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
    Coci EG; Codutti L; Fink C; Bartsch S; Grüning G; Lücke T; Kurth I; Riedel J
    Mol Cell Probes; 2017 Apr; 32():18-23. PubMed ID: 27856333
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
    Zabinyakov N; Bullivant G; Cao F; Fernandez Ojeda M; Jia ZP; Wen XY; Dowling JJ; Salomons GS; Mercimek-Andrews S
    PLoS One; 2017; 12(10):e0186645. PubMed ID: 29053735
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
    Coughlin CR; 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; 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
    J Inherit Metab Dis; 2021 Jan; 44(1):178-192. PubMed ID: 33200442
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
    Scharer G; Brocker C; Vasiliou V; Creadon-Swindell G; Gallagher RC; Spector E; Van Hove JL
    J Inherit Metab Dis; 2010 Oct; 33(5):571-81. PubMed ID: 20814824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.
    Haidar Z; Jalkh N; Corbani S; Fawaz A; Chouery E; Mégarbané A
    Seizure; 2018 Apr; 57():32-33. PubMed ID: 29547829
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; Coughlin CR; van Karnebeek CDM
    Mol Genet Metab; 2022 Apr; 135(4):350-356. PubMed ID: 35279367
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
    Fang C; Yang L; Xiao F; Yan K; Zhou W
    Epilepsy Res; 2024 May; 202():107363. PubMed ID: 38636407
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
    Jamali A; Kristensen E; Tangeraas T; Arntsen V; Sikiric A; Kupliauskiene G; Myren-Svelstad S; Berland S; Sejersted Y; Gerstner T; Hassel B; Bindoff LA; Brodtkorb E
    Epilepsy Res; 2023 Feb; 190():107099. PubMed ID: 36731270
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
    Pena IA; Roussel Y; Daniel K; Mongeon K; Johnstone D; Weinschutz Mendes H; Bosma M; Saxena V; Lepage N; Chakraborty P; Dyment DA; van Karnebeek CDM; Verhoeven-Duif N; Bui TV; Boycott KM; Ekker M; MacKenzie A
    Genetics; 2017 Dec; 207(4):1501-1518. PubMed ID: 29061647
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 15.