Results 1 to 10 of about 20,142 (302)

Pyridoxine deficiency modulates benzene inhalation-induced hematotoxicity associated with hepatic CYP2E1 activity in B6C3F1 mice [PDF]

open access: goldToxicology Reports, 2021
Pyridoxine is a co-factor in many enzymatic reactions and impacts of deficiency have been observed in affected populations. A possible modifying effect of pyridoxine deficiency on benzene toxicity was assessed in male B6C3F1 mice fed either a pyridoxine ...
Chanthana Tangjarukij   +4 more
doaj   +3 more sources

Effects of Pyridoxine Deficiency on Hippocampal Function and Its Possible Association with V-Type Proton ATPase Subunit B2 and Heat Shock Cognate Protein 70 [PDF]

open access: goldCells, 2020
Pyridoxine, one of the vitamin B6 vitamers, plays a crucial role in amino acid metabolism and synthesis of monoamines as a cofactor. In the present study, we observed the effects of pyridoxine deficiency on novel object recognition memory.
Hyo Young Jung   +9 more
doaj   +4 more sources

Complexities of pyridoxine response in PNPO deficiency

open access: goldEpilepsy & Behavior Reports, 2021
Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus.
Rajni Farmania   +4 more
doaj   +4 more sources

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures [PDF]

open access: goldBrain Sciences, 2021
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ).
Konrad Kaminiów   +3 more
doaj   +2 more sources

ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy [PDF]

open access: hybridPediatric Neurology Briefs, 2010
Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj   +2 more sources

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) [PDF]

open access: yesData in Brief, 2017
PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5′-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role ...
Martino L. di Salvo   +11 more
doaj   +4 more sources

Moderate pyridoxal phosphate deficiency enhances neuronal excitability and promotes calcium dysregulation [PDF]

open access: yesFrontiers in Neuroscience
ObjectivePyridoxal 5′-phosphate (PLP), the active form of pyridoxine (vitamin B6), is essential for converting glutamate into the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Severe consequences of PLP deficiency due to genetic defects are
Valerie Girgis   +5 more
doaj   +2 more sources

Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment [PDF]

open access: goldJournal of Central Nervous System Disease, 2014
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme.
Majid Alfadhel, Rana Kattan
doaj   +2 more sources

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