BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

390 related articles for article (PubMed ID: 29061647)

  • 1. 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]  

  • 2. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
    Al-Shekaili HH; Petkau TL; Pena I; Lengyell TC; Verhoeven-Duif NM; Ciapaite J; Bosma M; van Faassen M; Kema IP; Horvath G; Ross C; Simpson EM; Friedman JM; van Karnebeek C; Leavitt BR
    Hum Mol Genet; 2020 Nov; 29(19):3266-3284. PubMed ID: 32969477
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
    Crowther LM; Poms M; Zandl-Lang M; Abela L; Hartmann H; Seiler M; Mathis D; Plecko B
    J Inherit Metab Dis; 2023 Jan; 46(1):129-142. PubMed ID: 36225138
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
    Engelke UF; van Outersterp RE; Merx J; van Geenen FA; van Rooij A; Berden G; Huigen MC; Kluijtmans LA; Peters TM; Al-Shekaili HH; Leavitt BR; de Vrieze E; Broekman S; van Wijk E; Tseng LA; Kulkarni P; Rutjes FP; Mecinović J; Struys EA; Jansen LA; Gospe SM; Mercimek-Andrews S; Hyland K; Willemsen MA; Bok LA; van Karnebeek CD; Wevers RA; Boltje TJ; Oomens J; Martens J; Coene KL
    J Clin Invest; 2021 Aug; 131(15):. PubMed ID: 34138754
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.
    Pena IA; MacKenzie A; Van Karnebeek CDM
    Expert Rev Endocrinol Metab; 2017 Jan; 12(1):5-20. PubMed ID: 30058881
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
    Tincheva S; Todorov T; Todorova A; Georgieva R; Stamatov D; Yordanova I; Kadiyska T; Georgieva B; Bojidarova M; Tacheva G; Litvinenko I; Mitev V
    Neurol Sci; 2015 Dec; 36(12):2209-12. PubMed ID: 26232297
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
    Minenkova A; Jansen EEW; Cameron J; Barto R; Hurd T; MacNeil L; Salomons GS; Mercimek-Andrews S
    PLoS One; 2021; 16(9):e0257073. PubMed ID: 34495967
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
    Tamaura M; Shimbo H; Iai M; Yamashita S; Osaka H
    Brain Dev; 2015 Apr; 37(4):442-5. PubMed ID: 25123644
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.
    Gül-Mert G; İncecik F; Hergüner MÖ; Ceylaner S; Altunbaşak Ş
    Turk J Pediatr; 2015; 57(4):394-397. PubMed ID: 27186704
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 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. Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children.
    Lee HF; Chi CS; Tsai CR
    Brain Dev; 2020 May; 42(5):393-401. PubMed ID: 32173089
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 20.