BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 31508398)

  • 1. The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy.
    Wang J; Xue J; Gong P; Wu M; Yang W; Jiang S; Wu Y; Jiang Y; Zhang Y; Yuzyuk T; Li H; Yang Z
    Front Pediatr; 2019; 7():337. PubMed ID: 31508398
    [No Abstract]   [Full Text] [Related]  

  • 2. Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.
    Xue J; Wang J; Gong P; Wu M; Yang W; Jiang S; Wu Y; Jiang Y; Zhang Y; Yuzyuk T; Li H; Yang Z
    Sci Rep; 2019 Aug; 9(1):11371. PubMed ID: 31388081
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by
    Mercimek-Mahmutoglu S; Corderio D; Nagy L; Mutch C; Carter M; Struys E; Kyriakopoulou L
    Mol Genet Metab Rep; 2014; 1():124-128. PubMed ID: 27896080
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
    Pena IA; Marques LA; Laranjeira ÂB; Yunes JA; Eberlin MN; MacKenzie A; Arruda P
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):121-128. PubMed ID: 27615426
    [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. 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]  

  • 11. Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
    Boehm T; Hubmann H; Petroczi K; Mathis D; Klavins K; Fauler G; Plecko B; Struys E; Jilma B
    J Inherit Metab Dis; 2020 Jul; 43(4):891-900. PubMed ID: 31930735
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
    van Outersterp RE; Engelke UFH; Merx J; Berden G; Paul M; Thomulka T; Berkessel A; Huigen MCDG; Kluijtmans LAJ; Mecinović J; Rutjes FPJT; van Karnebeek CDM; Wevers RA; Boltje TJ; Coene KLM; Martens J; Oomens J
    Anal Chem; 2021 Nov; 93(46):15340-15348. PubMed ID: 34756024
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.