137 related articles for article (PubMed ID: 17088338)
1. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
Bok LA; Struys E; Willemsen MA; Been JV; Jakobs C
Arch Dis Child; 2007 Aug; 92(8):687-9. PubMed ID: 17088338
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
Striano P; Battaglia S; Giordano L; Capovilla G; Beccaria F; Struys EA; Salomons GS; Jakobs C
Epilepsia; 2009 Apr; 50(4):933-6. PubMed ID: 18717709
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.
Kaczorowska M; Kmiec T; Jakobs C; Kacinski M; Kroczka S; Salomons GS; Struys EA; Jozwiak S
J Child Neurol; 2008 Dec; 23(12):1455-9. PubMed ID: 18854520
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Struys EA; Nota B; Bakkali A; Al Shahwan S; Salomons GS; Tabarki B
Pediatrics; 2012 Dec; 130(6):e1716-9. PubMed ID: 23147983
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Mills PB; Struys E; Jakobs C; Plecko B; Baxter P; Baumgartner M; Willemsen MA; Omran H; Tacke U; Uhlenberg B; Weschke B; Clayton PT
Nat Med; 2006 Mar; 12(3):307-9. PubMed ID: 16491085
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Bennett CL; Chen Y; Hahn S; Glass IA; Gospe SM
Epilepsia; 2009 May; 50(5):1167-75. PubMed ID: 19128417
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Kanno J; Kure S; Narisawa A; Kamada F; Takayanagi M; Yamamoto K; Hoshino H; Goto T; Takahashi T; Haginoya K; Tsuchiya S; Baumeister FA; Hasegawa Y; Aoki Y; Yamaguchi S; Matsubara Y
Mol Genet Metab; 2007 Aug; 91(4):384-9. PubMed ID: 17433748
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
Oliveira R; Pereira C; Rodrigues F; Alfaite C; Garcia P; Robalo C; Fineza I; Gonçalves O; Struys E; Salomons G; Jakobs C; Diogo L
Epileptic Disord; 2013 Dec; 15(4):400-6. PubMed ID: 24184718
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
