159 related articles for article (PubMed ID: 31930735)
1. Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
Boehm T; Hubmann H; Petroczi K; Mathis D; Klavins K; Fauler G; Plecko B; Struys E; Jilma B
J Inherit Metab Dis; 2020 Jul; 43(4):891-900. PubMed ID: 31930735
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Inherited Disorders of Lysine Metabolism: A Review.
Bouchereau J; Schiff M
J Nutr; 2020 Oct; 150(Suppl 1):2556S-2560S. PubMed ID: 33000154
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
Pena IA; Marques LA; Laranjeira ÂB; Yunes JA; Eberlin MN; MacKenzie A; Arruda P
Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):121-128. PubMed ID: 27615426
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
Kava MP; Bryant L; Rowe P; Lewis B; Greed L; Balasubramaniam S
JIMD Rep; 2020 Jul; 54(1):9-15. PubMed ID: 32685344
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
Jung S; Tran NT; Gospe SM; Hahn SH
Mol Genet Metab; 2013 Nov; 110(3):237-40. PubMed ID: 23953072
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]