BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

491 related articles for article (PubMed ID: 21704546)

  • 21. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
    Pérez B; Gutiérrez-Solana LG; Verdú A; Merinero B; Yuste-Checa P; Ruiz-Sala P; Calvo R; Jalan A; Marín LL; Campos O; Ruiz MÁ; San Miguel M; Vázquez M; Castro M; Ferrer I; Navarrete R; Desviat LR; Lapunzina P; Ugarte M; Pérez-Cerdá C
    Epilepsia; 2013 Feb; 54(2):239-48. PubMed ID: 23350806
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
    Mills PB; Footitt EJ; Mills KA; Tuschl K; Aylett S; Varadkar S; Hemingway C; Marlow N; Rennie J; Baxter P; Dulac O; Nabbout R; Craigen WJ; Schmitt B; Feillet F; Christensen E; De Lonlay P; Pike MG; Hughes MI; Struys EA; Jakobs C; Zuberi SM; Clayton PT
    Brain; 2010 Jul; 133(Pt 7):2148-59. PubMed ID: 20554659
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
    Mathis D; Abela L; Albersen M; Bürer C; Crowther L; Beese K; Hartmann H; Bok LA; Struys E; Papuc SM; Rauch A; Hersberger M; Verhoeven-Duif NM; Plecko B
    J Inherit Metab Dis; 2016 Sep; 39(5):733-741. PubMed ID: 27342130
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. A Rare Presentation Characterized by Epileptic Spasms in
    Jiao X; Gong P; Niu Y; Zhang Y; Yang Z
    Front Genet; 2022; 13():804461. PubMed ID: 35495162
    [No Abstract]   [Full Text] [Related]  

  • 29. 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]  

  • 30. Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
    Hartmann H; Fingerhut M; Jakobs C; Plecko B
    Dev Med Child Neurol; 2011 Dec; 53(12):1150-3. PubMed ID: 21707605
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. 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]  

  • 36. 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]  

  • 37. An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
    Salomons GS; Bok LA; Struys EA; Pope LL; Darmin PS; Mills PB; Clayton PT; Willemsen MA; Jakobs C
    Ann Neurol; 2007 Oct; 62(4):414-8. PubMed ID: 17721876
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 25.