Results 11 to 20 of about 20,142 (302)

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria [PDF]

open access: yesJIMD Reports
Homocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan ...
Hewa Warawitage Dilanthi   +10 more
doaj   +2 more sources

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse. [PDF]

open access: goldBrain Commun
van Karnebeek CDM   +12 more
europepmc   +3 more sources

TRANSAMINASE AND PYRIDOXINE DEFICIENCY

open access: hybridJournal of Biological Chemistry, 1947
S R, AMES, P S, SARMA, C A, ELVEHJEM
openaire   +3 more sources

Impact of vitamin B6 deficiency on the severity of diabetic peripheral neuropathy – A cross sectional study

open access: yesSaudi Pharmaceutical Journal, 2023
Background: Diabetic Peripheral Neuropathy is one of the most important and significantly prevalent microvascular complications of Diabetes Mellitus. Pyridoxine is a key nutrient for protecting nerve health. The objective of this research is to study the
Moteb Khobrani   +7 more
doaj   +1 more source

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency

open access: yesFrontiers in Genetics, 2022
Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao   +4 more
doaj   +1 more source

ACUTE IZONIAZID POISONING WITH PRESENTATION OF A CLINICAL CASE [PDF]

open access: yesJournal of IMAB, 2022
Rimicid or isonide a group of medications which belong to anti-tuberculosis medicaments. The active substance isoniazid is used to treat pulmonary and extrapulmonary forms of tuberculosis, as well as prophylaxis in case of contact with infected ...
Evgenia Barzashka   +3 more
doaj   +1 more source

Effects of Pyridoxine on Growth Performance and Plasma Aminotransferases and Homocysteine of White Pekin Ducks [PDF]

open access: yesAsian-Australasian Journal of Animal Sciences, 2014
A dose-response experiment with seven supplemental pyridoxine levels (0, 0.66, 1.32, 1.98, 2.64, 3.30, and 3.96 mg/kg) was conducted to investigate the effects of pyridoxine on growth performance and plasma aminotransferases and homocysteine of White ...
Ming Xie   +4 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   +7 more sources

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

open access: yesChildren, 2023
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo   +5 more
doaj   +1 more source

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