Results 41 to 50 of about 20,142 (302)

Synthesis of B6 vitamin [PDF]

Hemijska Industrija, 2009
The importance of vitamin B6 has been known since its discovery in the 1940's. Chemical tests, elestrometric titration determinations, and absorption spectrum studies showed that this vitamin exists in three major chemical forms: pyridoxine (an alcohol),
Vučijak Nevena Ž., Petrović Slobodan D., Bezbradica Dejan I., Knežević-Jugović Zorica D., Mijin Dušan Ž.   +4 more
doaj   +1 more source

Isolated aortic root dilation in homocystinuria [PDF]

, 2017
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE, Elliott, PM, Guha, N, Kemp, H, Lachmann, R, Lorenzini, M, Murphy, E, Pandya, B, Pitcher, A   +8 more
core   +2 more sources

Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report [PDF]

, 2017
Background: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present,
Roessler, Florian C., Wolff, Stephanie
core   +1 more source

Studies on Pyridoxine Deficiency in Rats

Experimental Biology and Medicine, 1968
SummaryThe activity of pyridoxal phosphate-dependent enzymes was investigated in pyridoxine deficiency. Depression of the activity was most pronounced in serine and homoserine dehydratase, whereas the level of serine hydroxymethylase was not changed. Regeneration of liver after partial hepatectomy in pyridoxine deficiency proceeded at the normal rate ...
M, Takami, M, Fujioka, H, Wada, T, Taguchi   +3 more
openaire   +2 more sources

Nanophotonic Strategies for Chiral Biosensing: Nanoparticles, Metasurfaces, Magneto‐Optical, and Quantum Approaches

Advanced Photonics Research, EarlyView.
Recent advances in nanophotonics‐based chiral biosensing approaches are comprehensively reviewed, highlighting key trends, advantages, and limitations of each technology. Special attention is given to emerging strategies that exploit magneto‐optical and quantum plasmonic phenomena to enhance sensitivity down to the level of a few molecules, or even a ...
Jorge Ricardo Mejía‐Salazar
wiley   +1 more source

Pyridoxine Responsiveness and PNPO Gene Mutations

Pediatric Neurology Briefs, 2014
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

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

, 2017
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-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah, Baxter, Peter, Christensen, Ernst, Clayton, Peter T., Craigen, William J., De Lonlay, Pascale, Dulac, Olivier, Feillet, François, Footitt, Emma J., Hemingway, Cheryl, Hughes, M. Imelda, Jakobs, Cornelis, Marlow, Neil, Mills, Kevin A., Mills, Philippa B., Nabbout, Rima, Pike, Mike G., Rennie, Janet, Schmitt, Bernhard, Struys, Eduard A., Tuschl, Karin, Varadkar, Sophia, Zuberi, Sameer M.   +22 more
core  

Asymmetric Synthesis of Atropisomeric Amines via Transaminase‐Catalyzed Dynamic Kinetic Resolution

Advanced Synthesis &Catalysis, EarlyView.
A dynamic kinetic resolution approach is developed for the atroposelective synthesis of heterobiaryl primary amines. Using transaminases and leveraging Lewis acid‐base interactions to induce racemization, a variety of axially chiral primary amines are produced in high yields and enantioselectivities.
Juan M. Coto‐Cid, Patricia Rodríguez‐Salamanca, Christian M. Heckmann, Caroline E. Paul, Joaquín López‐Serrano, Rosario Fernández, José M. Lassaletta, Valentín Hornillos, Gonzalo de Gonzalo   +8 more
wiley   +1 more source

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism. [PDF]

J Inherit Metab Dis
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Keskinen T, Jalil S, Gümüşoğlu I, Juutila J, Kestilä N, Kuuluvainen E, Hietakangas V, Balboa D, Wartiovaara K, Hyvönen ME.   +9 more
europepmc   +2 more sources

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]

, 2015
Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins, FD Testai, G Sebastio, H Gan-Schreier, M Cozar, M Furujo, M Meier, M Nagao, ME Chamberlin, ME Chamberlin, ME Chamberlin, ML Couce, MM Rebollido-Fernandez, MS Rashed, PM Gallagher, R Banerjee, R Castro, R Urreitzi, R Urreizti, S Chadwick, S Stabler, S Tortorelli, SH Mudd, SH Mudd, SJ Moat, Y Chien   +25 more
core   +1 more source