Results 11 to 20 of about 59,025 (322)

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

open access: yesMolecular Genetics & Genomic Medicine, 2022
Background Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal‐onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first‐line ...
Jun Chen   +8 more
doaj   +1 more source

Pyridoxine: The ‘Ba.Six’ of use in Nausea and Vomiting of Pregnancy [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2019
Over the centuries, the dietary and biochemical essentiality of pyridoxine in the humans has been well established. Apart from various physiological functions, pyridoxine is therapeutically important in Nausea and Vomiting of Pregnancy (NVP).
Abbas Hassan   +2 more
doaj   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

open access: yes, 2010
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}
Adam   +50 more
core   +3 more sources

Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids [PDF]

open access: yes, 1974
The effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids was studied and the following results were obtained.
Ikegami, T.   +3 more
core   +1 more source

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

open access: yes, 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 and
Carducci, Carla   +11 more
core   +2 more sources

Toward eradication of B-vitamin deficiencies : considerations for crop biofortification [PDF]

open access: yes, 2018
'Hidden hunger' involves insufficient intake of micronutrients and is estimated to affect over two billion people on a global scale. Malnutrition of vitamins and minerals is known to cause an alarming number of casualties, even in the developed world ...
Strobbe, Simon   +1 more
core   +3 more sources

USE OF PYRIDOXINE TO INCREASE ANTICACNER ACTIVITY OF METHIONINE-GAMMA-LYASE IN MURINE CANCER MODELS

open access: yesСибирский онкологический журнал, 2017
We presented results of monotherapy and combination therapy of transplantable murine tumor models using methionine-gamma-lyase (MGL) and pyridoxine hydrochloride. We studied MGL from Clostridium sporogenes and Citrobacter freundii.
D. Zh. Davydov   +8 more
doaj   +1 more source

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

open access: yesBrain 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   +1 more source

New proof-of-concept in viral inactivation: virucidal efficacy of 405 nm light against feline calicivirus as a model for norovirus decontamination [PDF]

open access: yes, 2016
The requirement for novel decontamination technologies for use in hospitals is ever present. One such system uses 405 nm visible light to inactivate microorganisms via ROS-generated oxidative damage.
Anderson, John G.   +7 more
core   +1 more source

Scientific Opinion on the safety and efficacy of vitamin B6 (pyridoxine hydrochloride) as a feed additive for all animal species

open access: yesEFSA Journal, 2011
Pyridoxine hydrochloride is a form of vitamin B6, an essential micronutrient. Oral administration routes of pyridoxine hydrochloride via feed or water are considered as bioequivalent.
EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP)
doaj   +1 more source

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