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 *

87 related articles for article (PubMed ID: 29548777)

  • 1. Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
    di Salvo ML; Mastrangelo M; Nogués I; Tolve M; Paiardini A; Carducci C; Mei D; Montomoli M; Tramonti A; Guerrini R; Contestabile R; Leuzzi V
    Mol Genet Metab; 2018 Dec; 125(4):359. PubMed ID: 29548777
    [No Abstract]   [Full Text] [Related]  

  • 2. Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
    di Salvo ML; Mastrangelo M; Nogués I; Tolve M; Paiardini A; Carducci C; Mei D; Montomoli M; Tramonti A; Guerrini R; Contestabile R; Leuzzi V
    Mol Genet Metab; 2017 Sep; 122(1-2):135-142. PubMed ID: 28818555
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
    di Salvo ML; Mastrangelo M; Nogués I; Tolve M; Paiardini A; Carducci C; Mei D; Montomoli M; Tramonti A; Guerrini R; Contestabile R; Leuzzi V
    Data Brief; 2017 Dec; 15():868-875. PubMed ID: 29379851
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
    Schmitt B; Baumgartner M; Mills PB; Clayton PT; Jakobs C; Keller E; Wohlrab G
    Dev Med Child Neurol; 2010 Jul; 52(7):e133-42. PubMed ID: 20370816
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
    Ware TL; Earl J; Salomons GS; Struys EA; Peters HL; Howell KB; Pitt JJ; Freeman JL
    Dev Med Child Neurol; 2014 May; 56(5):498-502. PubMed ID: 24266778
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.
    Xue J; Chang X; Zhang Y; Yang Z
    Metab Brain Dis; 2017 Aug; 32(4):1081-1087. PubMed ID: 28349276
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.
    Zhang L; Zhou D; Guan W; Ren W; Sun W; Shi J; Lin Q; Zhang J; Qiao T; Ye Y; Wu Y; Zhang Y; Zuo X; Connor KL; Xu G
    Cell Death Dis; 2017 Dec; 8(12):3214. PubMed ID: 29238081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.
    Ngo EO; LePage GR; Thanassi JW; Meisler N; Nutter LM
    Biochemistry; 1998 May; 37(21):7741-8. PubMed ID: 9601034
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
    Guerriero RM; Patel AA; Walsh B; Baumer FM; Shah AS; Peters JM; Rodan LH; Agrawal PB; Pearl PL; Takeoka M
    Pediatr Neurol; 2017 Nov; 76():47-53. PubMed ID: 28985901
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase.
    Kang JH; Hong ML; Kim DW; Park J; Kang TC; Won MH; Baek NI; Moon BJ; Choi SY; Kwon OS
    Eur J Biochem; 2004 Jun; 271(12):2452-61. PubMed ID: 15182361
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
    Veeravigrom M; Damrongphol P; Ittiwut R; Ittiwut C; Suphapeetiporn K; Shotelersuk V
    Genet Mol Res; 2015 Oct; 14(4):14130-5. PubMed ID: 26535729
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].
    Couce ML; Dolores Bóveda M; García-Jimémez C; Balmaseda E; Vives I; Castiñeiras DE; Fernández-Marmiesse A; Fraga JM; Mudd SH; Corrales FJ
    Mol Genet Metab; 2015 Mar; 114(3):486. PubMed ID: 25877476
    [No Abstract]   [Full Text] [Related]  

  • 13. Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
    Goyal M; Fequiere PR; McGrath TM; Hyland K
    Pediatr Neurol; 2013 Mar; 48(3):227-31. PubMed ID: 23419474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pyridoxine 5'-phosphate oxidase, not pyridoxal kinase, involves in long-term potentiation induction in the rat dentate gyrus.
    Kwak SE; Kim JE; Kim DW; Kwon OS; Choi SY; Kang TC
    Hippocampus; 2009 Jan; 19(1):45-56. PubMed ID: 18680158
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Age-dependent changes of pyridoxal phosphate synthesizing enzymes immunoreactivities and activities in the gerbil hippocampal CA1 region.
    Hwang IK; Kim DW; Jung JY; Yoo KY; Cho JH; Kwon OS; Kang TC; Choi SY; Kim YS; Won MH
    Mech Ageing Dev; 2005 Dec; 126(12):1322-30. PubMed ID: 16207494
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cloning and characterization of a pyridoxine 5'-phosphate oxidase from silkworm, Bombyx mori.
    Huang SH; Shi RJ; Zhang JY; Wang Z; Huang LQ
    Insect Mol Biol; 2009 Jun; 18(3):365-71. PubMed ID: 19523068
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Corrigendum to "A systematic cross-sectional survey of multiple sulfatase deficiency" [Mol Genet Metab. 2020 Aug;130(4):283-288].
    Cappuccio G; Alagia M; Brunetti-Pierri N
    Mol Genet Metab; 2020; 131(1-2):284. PubMed ID: 33144036
    [No Abstract]   [Full Text] [Related]  

  • 18. Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].
    Senanayake DN; Jasinge EA; Pindolia K; Wanigasinghe J; Monaghan K; Suchy SF; Wei S; Jaysena S; Wolf B
    Mol Genet Metab Rep; 2017 Jun; 11():95. PubMed ID: 28653700
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
    Gospe SM
    Curr Opin Neurol; 2006 Apr; 19(2):148-53. PubMed ID: 16538088
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.