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Year Number of Results
1975 1
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1978 1
1979 1
1981 3
1982 1
1983 1
1985 4
1986 1
1988 3
1989 1
1994 1
1996 3
1998 2
1999 1
2000 1
2001 3
2002 5
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2006 2
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2014 1
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51 results

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Page 1
Manganese metabolism in humans.
Chen P, Bornhorst J, Aschner M. Chen P, et al. Front Biosci (Landmark Ed). 2018 Mar 1;23:1655-1679. doi: 10.2741/4665. Front Biosci (Landmark Ed). 2018. PMID: 29293455 Free article. Review.
Manganese (Mn) is an essential nutrient for intracellular activities; it functions as a cofactor for a variety of enzymes, including arginase, glutamine synthetase (GS), pyruvate carboxylase and Mn superoxide dismutase (Mn-SOD). Through these metalloproteins, Mn pla …
Manganese (Mn) is an essential nutrient for intracellular activities; it functions as a cofactor for a variety of enzymes, including arginas …
Pyruvate carboxylase.
Wallace JC, Jitrapakdee S, Chapman-Smith A. Wallace JC, et al. Int J Biochem Cell Biol. 1998 Jan;30(1):1-5. doi: 10.1016/s1357-2725(97)00147-7. Int J Biochem Cell Biol. 1998. PMID: 9597748 Review.
Pyruvate carboxylase [EC 6.4.1.1] is a member of the family of biotin-dependent carboxylases and is found widely among eukaryotic tissues and in many prokaryotic species. ...Diabetes and hyperthyroidism increase the level of expression of pyruvate carboxyl …
Pyruvate carboxylase [EC 6.4.1.1] is a member of the family of biotin-dependent carboxylases and is found widely among eukaryo …
Multiple carboxylase deficiency.
Nyhan WL. Nyhan WL. Int J Biochem. 1988;20(4):363-70. doi: 10.1016/0020-711x(88)90202-9. Int J Biochem. 1988. PMID: 3284772 Review.
1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase. 2. ...
1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propio …
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I, Roe CR, Pascual JM. Marin-Valencia I, et al. Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Mol Genet Metab. 2010. PMID: 20598931 Review.
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive anabolism. …
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate …
Disorders of gluconeogenesis.
van den Berghe G. van den Berghe G. J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108. J Inherit Metab Dis. 1996. PMID: 8884571 Review.
Gluconeogenesis, or the formation of glucose from mainly lactate/ pyruvate, glycerol and alanine, plays an essential role in the maintenance of normoglycaemia during fasting. Inborn deficiencies are known of each of the four enzymes of the glycolytic-gluconeogenic pathway …
Gluconeogenesis, or the formation of glucose from mainly lactate/ pyruvate, glycerol and alanine, plays an essential role in the main …
Disorders of pyruvate metabolism.
De Meirleir L. De Meirleir L. Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Handb Clin Neurol. 2013. PMID: 23622387 Review.
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism. ...Deficiencies in the other subunits have also been described, but in a smaller number of patients. Pyruvate carboxylase …
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate meta …
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. DiMauro S, et al. Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602. Ann Neurol. 1985. PMID: 3927817 Review.
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Aspatwar A, Supuran CT, Waheed A, Sly WS, Parkkila S. Aspatwar A, et al. J Physiol. 2023 Jan;601(2):257-274. doi: 10.1113/JP283579. Epub 2022 Dec 19. J Physiol. 2023. PMID: 36464834 Free PMC article. Review.
The metabolic profiles of these children showed a reduced supply of HCO(3) (-) to the enzymes that take part in intermediary metabolism: carbamoylphosphate synthetase, pyruvate carboxylase, propionyl-CoA carboxylase and 3-methylcrotonyl-CoA carboxylase …
The metabolic profiles of these children showed a reduced supply of HCO(3) (-) to the enzymes that take part in intermediary metabolism: car …
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M. Robinson BH, et al. J Inherit Metab Dis. 1996;19(4):452-62. doi: 10.1007/BF01799106. J Inherit Metab Dis. 1996. PMID: 8884569 Review.
Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the enzyme and the patient's clinical symptoms. Pyruvate carboxylase deficiency, on the other hand, is a true autosomal re …
Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the …
Ammonia metabolism and hyperammonemic disorders.
Walker V. Walker V. Adv Clin Chem. 2014;67:73-150. doi: 10.1016/bs.acc.2014.09.002. Epub 2014 Nov 4. Adv Clin Chem. 2014. PMID: 25735860 Review.
However, ammonia neurotoxicity is multifactorial, with disturbances also in neurotransmitters, energy production, anaplerosis, cerebral blood flow, potassium, and sodium. Around 90% of hyperammonemic patients have liver disease. Inherited defects are rare. They are being r …
However, ammonia neurotoxicity is multifactorial, with disturbances also in neurotransmitters, energy production, anaplerosis, cerebral bloo …
51 results