265 related articles for article (PubMed ID: 23683770)
1. 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]
2. 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]
3. 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]
4. 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]
5. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Gallagher RC; Van Hove JL; Scharer G; Hyland K; Plecko B; Waters PJ; Mercimek-Mahmutoglu S; Stockler-Ipsiroglu S; Salomons GS; Rosenberg EH; Struys EA; Jakobs C
Ann Neurol; 2009 May; 65(5):550-6. PubMed ID: 19142996
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
Mahajnah M; Corderio D; Austin V; Herd S; Mutch C; Carter M; Struys E; Mercimek-Mahmutoglu S
Pediatr Neurol; 2016 Jul; 60():60-5. PubMed ID: 27212567
[TBL] [Abstract][Full Text] [Related]
14. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Plecko B; Stöckler-Ipsiroglu S; Paschke E; Erwa W; Struys EA; Jakobs C
Ann Neurol; 2000 Jul; 48(1):121-5. PubMed ID: 10894227
[TBL] [Abstract][Full Text] [Related]
15. [Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
Xue J; Yang ZX; Li H; Qian P; Wu Y; Jiang YW; Liu XY
Zhonghua Er Ke Za Zhi; 2016 Aug; 54(8):592-6. PubMed ID: 27510871
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
Bok LA; Maurits NM; Willemsen MA; Jakobs C; Teune LK; Poll-The BT; de Coo IF; Toet MC; Hagebeuk EE; Brouwer OF; van der Hoeven JH; Sival DA
Epilepsia; 2010 Dec; 51(12):2406-11. PubMed ID: 20887371
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
