BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 34138754)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics.
    Kuhara T; Akiyama T; Ohse M; Koike T; Shibasaki J; Imai K; Cooper AL
    Anal Biochem; 2020 Sep; 604():113739. PubMed ID: 32339489
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Inherited Disorders of Lysine Metabolism: A Review.
    Bouchereau J; Schiff M
    J Nutr; 2020 Oct; 150(Suppl 1):2556S-2560S. PubMed ID: 33000154
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.
    Böhm HO; Yazdani M; Sandås EM; Østeby Vassli A; Kristensen E; Rootwelt H; Skogvold HB; Brodtkorb E; Elgstøen KBP
    Int J Mol Sci; 2022 Dec; 23(24):. PubMed ID: 36555701
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
    Jagadeesh S; Suresh B; Murugan V; Suresh S; Salomans GS; Struys EA; Jacobs C
    Paediatr Int Child Health; 2013 May; 33(2):113-5. PubMed ID: 23925287
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

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

    [Next]    [New Search]
    of 12.