172 related articles for article (PubMed ID: 32685344)
1. 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]
2. 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]
3. 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]
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. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Coughlin CR; van Karnebeek CD; Al-Hertani W; Shuen AY; Jaggumantri S; Jack RM; Gaughan S; Burns C; Mirsky DM; Gallagher RC; Van Hove JL
Mol Genet Metab; 2015; 116(1-2):35-43. PubMed ID: 26026794
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.
Kaminiów K; Pająk M; Pająk R; Paprocka J
Brain Sci; 2021 Dec; 12(1):. PubMed ID: 35053812
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
