262 related articles for article (PubMed ID: 27615426)
1. 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]
2. New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Crowther LM; Mathis D; Poms M; Plecko B
J Inherit Metab Dis; 2019 Jul; 42(4):620-628. PubMed ID: 30767241
[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. 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]
5. 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]
6. 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]
7. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.
Pena IA; MacKenzie A; Van Karnebeek CDM
Expert Rev Endocrinol Metab; 2017 Jan; 12(1):5-20. PubMed ID: 30058881
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
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. Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Sauer SW; Opp S; Hoffmann GF; Koeller DM; Okun JG; Kölker S
Brain; 2011 Jan; 134(Pt 1):157-70. PubMed ID: 20923787
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
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]
