BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 28349276)

  • 1. 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]  

  • 2. 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]  

  • 3. Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.
    Chi W; Iyengar ASR; Albersen M; Bosma M; Verhoeven-Duif NM; Wu CF; Zhuang X
    Hum Mol Genet; 2019 Sep; 28(18):3126-3136. PubMed ID: 31261385
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Pyridoxine responsiveness in novel mutations of the PNPO gene.
    Plecko B; Paul K; Mills P; Clayton P; Paschke E; Maier O; Hasselmann O; Schmiedel G; Kanz S; Connolly M; Wolf N; Struys E; Stockler S; Abela L; Hofer D
    Neurology; 2014 Apr; 82(16):1425-33. PubMed ID: 24658933
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.
    Guerin A; Aziz AS; Mutch C; Lewis J; Go CY; Mercimek-Mahmutoglu S
    J Child Neurol; 2015 Aug; 30(9):1218-25. PubMed ID: 25296925
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.
    Lugli L; Bariola MC; Ori L; Lucaccioni L; Berardi A; Ferrari F
    J Child Neurol; 2019 Dec; 34(14):937-943. PubMed ID: 31397616
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
    Mills PB; Camuzeaux SS; Footitt EJ; Mills KA; Gissen P; Fisher L; Das KB; Varadkar SM; Zuberi S; McWilliam R; Stödberg T; Plecko B; Baumgartner MR; Maier O; Calvert S; Riney K; Wolf NI; Livingston JH; Bala P; Morel CF; Feillet F; Raimondi F; Del Giudice E; Chong WK; Pitt M; Clayton PT
    Brain; 2014 May; 137(Pt 5):1350-60. PubMed ID: 24645144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
    Barile A; Mills P; di Salvo ML; Graziani C; Bunik V; Clayton P; Contestabile R; Tramonti A
    Int J Mol Sci; 2021 Nov; 22(21):. PubMed ID: 34769443
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
    Alghamdi M; Bashiri FA; Abdelhakim M; Adly N; Jamjoom DZ; Sumaily KM; Alghanem B; Arold ST
    Clin Genet; 2021 Jan; 99(1):99-110. PubMed ID: 32888189
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
    Jiao X; Gong P; Niu Y; Xu Z; Zhang Y; Yang Z
    Hum Mol Genet; 2023 May; 32(11):1765-1771. PubMed ID: 36106796
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
    Ciapaite J; Albersen M; Savelberg SMC; Bosma M; Tessadori F; Gerrits J; Lansu N; Zwakenberg S; Bakkers JPW; Zwartkruis FJT; van Haaften G; Jans JJ; Verhoeven-Duif NM
    Biochim Biophys Acta Mol Basis Dis; 2020 Mar; 1866(3):165607. PubMed ID: 31759955
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Pyridoxine dependent epilepsies: new therapeutical point of view.
    Falsaperla R; Corsello G
    Ital J Pediatr; 2017 Aug; 43(1):68. PubMed ID: 28779752
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
    Ruiz A; García-Villoria J; Ormazabal A; Zschocke J; Fiol M; Navarro-Sastre A; Artuch R; Vilaseca MA; Ribes A
    Mol Genet Metab; 2008 Feb; 93(2):216-8. PubMed ID: 18024216
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
    Mills PB; Surtees RA; Champion MP; Beesley CE; Dalton N; Scambler PJ; Heales SJ; Briddon A; Scheimberg I; Hoffmann GF; Zschocke J; Clayton PT
    Hum Mol Genet; 2005 Apr; 14(8):1077-86. PubMed ID: 15772097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Severe fetal anemia and neonatal epileptic encephalopathy caused by a novel PNPO mutation].
    Lloreda-Garcia JM; Fernandez-Fructuoso JR; Martinez-Ferrandez C; Fuentes-Gutierrez C
    Rev Neurol; 2017 Oct; 65(7):335-336. PubMed ID: 28929476
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.
    Porri S; Fluss J; Plecko B; Paschke E; Korff CM; Kern I
    Neuropediatrics; 2014 Feb; 45(1):64-8. PubMed ID: 24297574
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.