Results 91 to 100 of about 36,321 (324)

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

open access: yesFrontiers in Psychiatry
BackgroundPathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to ...
Mustafa A. Salih   +5 more
doaj   +1 more source

Spectroelectrochemical Investigation of the Interaction of Adenine with Pyridoxine at Physiological pH

open access: yesJournal of Spectroscopy, 2019
Spectroelectrochemical techniques were used to probe the interaction of adenine with pyridoxine at pH 7.0. Analysis of UV-visible absorption of the adenine-pyridoxine complex at 260 nm using the Lineweaver–Burk double reciprocal plot produced a linear ...
Yasmin Roye   +3 more
doaj   +1 more source

Does pyridoxine control behavioral symptoms in adult patients treated with levetiracetam? Case series from UAE

open access: yesEpilepsy and Behavior Case Reports, 2015
Behavioral symptoms are known side effects of levetiracetam. Previous case series in children and adolescents have demonstrated the potential effect of pyridoxine in ameliorating these symptoms.
Taoufik Alsaadi   +2 more
doaj   +1 more source

Homocystinuria: Reduced folate levels during pyridoxine treatment

open access: yes, 1973
Homocystinuria: reduced folate levels during pyridoxine treatment. Nine patients with homocystinuria due to cystathionine synthase deficiency were treated with pyridoxine: 6 responded biochemically and 5 of these showed marked clinical improvement.
Brian Turner, Bridget Wilcken
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Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

open access: yes, 2005
Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder. We have recently described isolated pipecolic acid elevations in the plasma and/or CSF of three patients with pyridoxine-dependent epilepsy with ...
Plecko, B;Hikel, C;Korenke, GC;Schmitt, B;Baumgartner, M;Baumeister, F;Jakobs, C;Struys, E;Erwa, W;Stöckler-Ipsiroglu, S
core   +1 more source

Genetic Tools in the Nakaseomyces clade for Evolutionary Comparisons of Signal Transduction Pathways

open access: yesYeast, EarlyView.
ABSTRACT The genus Nakaseomyces provides four species that are closely related but have different characteristics. For example, N. glabratus (formerly known as Candida glabrata) is a common human pathogen, whereas N. bracarensis and N. nivariensis have been isolated in clinical settings but are not common human pathogens. N.
Maria Abraham   +2 more
wiley   +1 more source

Pharmaceutical policy and off‐label prescribing in pregnancy: A population‐based historical cohort study analyzing inequality in access to antiemetics within Australia's Pharmaceutical Benefits Scheme

open access: yesActa Obstetricia et Gynecologica Scandinavica, EarlyView.
Public spending on antiemetics among pregnant women in Australia is concentrated in socioeconomically disadvantaged women. However, public expenditure is also driven by off‐label ondansetron use (i.e., use outside regulatory‐approved indications), highlighting a misalignment between pharmaceutical policy, public expenditure patterns, and pregnant women'
Hannah Jackson   +4 more
wiley   +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

open access: yesCurrent Developments in Nutrition
Background: Pyridoxine-dependent epilepsy (PDE) is identified as a rare neurometabolic disease marked by biallelic pathogenic mutations of the ALDH7A1 gene.
Ali Jafari   +5 more
doaj   +1 more source

Pyridoxine Wound Healing Trial

open access: yes, 2013
: The purpose of this study, which was done in conjunction with the Arizona Heart Foundation, was to evaluate whether pyridoxine accelerates ulcer wound healing in diabetic patients with ulcers in the lower extremities.

core  

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