Results 51 to 60 of about 1,288 (135)

Inborn errors of metabolism (IEM): a general overview [PDF]

, 2011
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of inborn errors of ...
Ritenuti, Michel
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Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-940, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Modelling the acid/base H-1 NMR chemical shift limits of metabolites in human urine [PDF]

, 2016
INTRODUCTION: Despite the use of buffering agents the 1H NMR spectra of biofluid samples in metabolic profiling investigations typically suffer from extensive peak frequency shifting between spectra.
Bundy, JG, De Iorio, M, Ebbels, TMD, Tredwell, GD   +3 more
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Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases [PDF]

, 2017
In recent years, a substantial body of evidence has emerged demonstrating that purine and pyrimidine synthesis and metabolism play major roles in controlling embryonic and fetal development and organogenesis.
D. Lecca, M. Fumagalli, M.P. Abbracchio, S. Ceruti   +3 more
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Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease [PDF]

Mitapivat is an investigational, oral, small-molecule allosteric activator of pyruvate kinase (PK). PK is a regulatory glycolytic enzyme that is key in providing the red blood cell (RBC) with sufficient amounts of adenosine triphosphate (ATP).
Bartels, Marije, Biemond, Bart J., Bos, Jennifer, Cnossen, Marjon H., Derichs, Cleo, Jans, Judith J.M., Nur, Erfan, Rab, Minke A.E., Rijneveld, Anita W., Ruiter, Titine J.J., Schutgens, Roger E.G., van Beers, Eduard J., van der Veen, Sigrid, van Dijk, Myrthe J., van Oirschot, Brigitte A., van Solinge, Wouter W., van Wijk, Richard   +16 more
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Genetic And Epigenetic Regulation Of Dihydropyrimidinase And Beta-Ureidopropionase In Individuals With Altered Uracil Catabolism And Normal Dihydro Pyrimidine Dehydrogenase Enzyme Activity [PDF]

, 2007
There remain a number of patients presenting with 5-fluorouracil (5-FU) toxicity despite normal dihydropyrimidine dehydrogenase (DPD) enzyme activity, suggesting possible deficiencies in the two enzymes downstream of DPD in the uracil catabolic pathway ...
Thomas, Holly Reed
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In silico experimentation with a model of hepatic mitochondrial folate metabolism [PDF]

, 2006
BACKGROUND: In eukaryotes, folate metabolism is compartmentalized and occurs in both the cytosol and the mitochondria. The function of this compartmentalization and the great changes that occur in the mitochondrial compartment during embryonic ...
Gregory, Jesse F, Lam, Shi-Ling, Nijhout, H Frederik, Reed, Michael C, Shane, Barry, Ulrich, Cornelia M   +5 more
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Metabolomics of Mammalian and Cellular Models of Aging [PDF]

, 2016
Aging is often associated with impaired cognition and a progressive loss of organ function over time accompanied by an increased susceptibility for many disorders, including Alzheimer\u27s disease (AD), Parkinson\u27s disease (PD), heart disease ...
Duval, Nathan Gonzales
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UEG Week 2025 Poster Presentations

United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley   +1 more source

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism [PDF]

, 1997
Abeling, N.G.G.M., de Abreu, R.A., de Jong, J.G.N., Engelke, U., Heerschap, A., Rotteveel, J., van Gennip, A.H., Wevers, R.   +7 more
core   +3 more sources