Results 71 to 80 of about 426 (124)

B Vitamins: Small molecules, big effects

, 2019
In this themed issue of the Journal of Inherited Metabolic Disease, we review the roles of six of the B vitamins in human disease, focussing on treatable inborn errors of metabolism. The special issue starts with a review of thiamine metabolism.
Rahman, S, Baumgartner, M
core  

ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals. [PDF]

Nutr Metab (Lond), 2022
Lin CH, Nfor ON, Ho CC, Hsu SY, Tantoh DM, Liaw YC, Mochly-Rosen D, Chen CH, Liaw YP.   +8 more
europepmc   +1 more source

Epilepsy and Hydrocephalus: Should Pyridoxine-Dependent Epilepsy Cross Our Minds? [PDF]

Ann Indian Acad Neurol, 2020
Kesavan S, Singanamalla B, Krishna Sahitya DS, Saini AG, Vyas S.   +4 more
europepmc   +1 more source

Impaired PLP-dependent metabolism in brain samples from Huntington disease patients and transgenic R6/1 mice

Oxidative stress has been described as important to Huntington disease (HD) progression. In a previous HD study, we identified several carbonylated proteins, including pyridoxal kinase and antiquitin, both of which are involved in the metabolism of ...
Sorolla, M. Alba, Rodríguez-Colman, María José, Vall-Llaura, Núria, Lucas, José J., Fernández-Nogales, Marta, Ferrer, Isidro (Ferrer Abizanda), Vived, Celia, Cabiscol, Elisa   +7 more
core   +1 more source

Is Vitamin B6 a Precision Therapy for Neonatal Seizures? [PDF]

Neurol Int
Falsaperla R, Sortino V, Scalia B, Saporito MAN.   +3 more
europepmc   +1 more source

Pyridoxine Trial in Early Infantile Epileptic Encephalopathy: Never Forget! [PDF]

Ann Indian Acad Neurol, 2020
Sharawat IK, Suthar R, Saini AG, Sankhyan N.   +3 more
europepmc   +1 more source

Metabolic Seizures. [PDF]

Front Neurol, 2021
Almannai M, Al Mahmoud RA, Mekki M, El-Hattab AW.   +3 more
europepmc   +1 more source

Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic Composition. [PDF]

J Am Chem Soc
Posthumus TB, Engelke UFH, Aspers RLEG, Merx J, Boltje TJ, Martens J, Wevers RA, Feiters MC, Rutjes FPJT, Tessari M.   +9 more
europepmc   +1 more source

Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review. [PDF]

Curr Dev Nutr
Jafari A, Abbasi MM, Abbasi H, Rahnemayan S, Bakhshimoghaddam F, Doaei S.   +5 more
europepmc   +1 more source

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]

J Neurosci
Liang Z, Wu J, Liu Q, Qin D, Wang M, Zhong X, Guo W.   +6 more
europepmc   +1 more source