Results 21 to 30 of about 7,277 (176)

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

JIMD Reports, 2020
Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of ...
Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang   +9 more
doaj   +1 more source

Pediatric Cyanide Poisoning After Ingestion of Apricot Seeds

Journal of Pediatric Emergency and Intensive Care Medicine, 2020
Cyanide is one of the strongest and lethal poisons. Cyanide leads to tissue hypoxia and lactic acid accumulation. Hydroxocobalamin is a safe, fast and effective antidote that could be used, especially in children.
Yüksel Bıcılıoğlu, İhsan Yıldırım, Pınar Yazıcı Özkaya, Alkan Bal   +3 more
doaj   +1 more source

Midazolam Efficacy Against Acute Hydrogen Sulfide-Induced Mortality and Neurotoxicity. [PDF]

, 2018
Hydrogen sulfide (H2S) is a colorless, highly neurotoxic gas. It is not only an occupational and environmental hazard but also of concern to the Department of Homeland Security for potential nefarious use. Acute high-dose H2S exposure causes death, while
Anantharam, Poojya, Imerman, Paula, Kim, Dong-Suk, Mahama, Belinda, Padhi, Piyush, Rumbeiha, Wilson K, Whitley, Elizabeth M   +6 more
core   +1 more source

Vitamin B₁₂ in Foods, Food Supplements, and Medicines—A Review of Its Role and Properties with a Focus on Its Stability

Molecules, 2022
Vitamin B12, also known as the anti-pernicious anemia factor, is an essential micronutrient totally dependent on dietary sources that is commonly integrated with food supplements.
Žane Temova Rakuša, Robert Roškar, Neal Hickey, Silvano Geremia   +3 more
doaj   +1 more source

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]

, 2018
FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A.   +9 more
core   +1 more source

Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?

Frontiers in Pharmacology, 2022
Vitamin B12 or cobalamin deficiency is a commonly encountered clinical scenario and most clinicians will have familiarity prescribing Vitamin B12 to treat their patients.
Ramyia Elangovan, Julien Baruteau, Julien Baruteau, Julien Baruteau   +3 more
doaj   +1 more source

Vitamin B12 Reduces TDP-43 Toxicity by Alleviating Oxidative Stress and Mitochondrial Dysfunction

Antioxidants, 2021
TAR DNA-binding protein 43 (TDP-43) is a member of an evolutionarily conserved family of heterogeneous nuclear ribonucleoproteins that modulate multiple steps in RNA metabolic processes.
Yu-Mi Jeon, Younghwi Kwon, Shinrye Lee, Seyeon Kim, Myungjin Jo, Seongsoo Lee, Sang Ryong Kim, Kiyoung Kim, Hyung-Jun Kim   +8 more
doaj   +1 more source

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]

, 2015
The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis, D'Allesandro, Mariella, Dean, John, Deciphering Developmental Disorders Study, Hauptfleisch, Catherine, Lochhead, Paul, Samant, Shalaka   +6 more
core   +1 more source

Association between hydroxocobalamin administration and acute kidney injury after smoke inhalation: a multicenter retrospective study

Critical Care, 2019
Background The use of hydroxocobalamin has long been advocated for treating suspected cyanide poisoning after smoke inhalation. Intravenous hydroxocobalamin has however been shown to cause oxalate nephropathy in a single-center study.
François Dépret, Clément Hoffmann, Laura Daoud, Camille Thieffry, Laure Monplaisir, Jules Creveaux, Djillali Annane, Erika Parmentier, Daniel Mathieu, Sandrine Wiramus, Dominique Demeure DIt Latte, Aubin Kpodji, Julien Textoris, Florian Robin, Kada Klouche, Emmanuel Pontis, Guillaume Schnell, François Barbier, Jean-Michel Constantin, Thomas Clavier, Damien du Cheyron, Nicolas Terzi, Bertrand Sauneuf, Emmanuel Guerot, Thomas Lafon, Alexandre Herbland, Bruno Megarbane, Thomas Leclerc, Vincent Mallet, Romain Pirracchio, Matthieu Legrand   +30 more
doaj   +1 more source

Transient Transcriptional Regulation of the CYS-C1 Gene and Cyanide Accumulation upon Pathogen Infection in the Plant Immune Response [PDF]

, 2013
Cyanide is produced concomitantly with ethylene biosynthesis. Arabidopsis (Arabidopsis thaliana) detoxifies cyanide primarily through the enzyme b-cyanoalanine synthase, mainly by the mitochondrial CYS-C1.
Bejarano, Eduardo R., García Fernández, Irene, Gotor Martínez, Cecilia, Romero González, Luis Carlos   +3 more
core   +1 more source