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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 2
1978 1
1979 1
1982 1
1986 2
1987 1
1988 1
1989 1
1990 2
1993 1
1995 2
1997 1
1998 2
1999 1
2000 1
2001 1
2002 1
2003 1
2004 6
2005 3
2006 2
2007 5
2008 4
2009 2
2010 3
2011 3
2012 3
2013 1
2014 3
2015 4
2016 1
2017 2
2018 2
2019 1
2021 2
2022 3
2023 2
2024 0

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68 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 plays crit …
Manganese (Mn) is an essential nutrient for intracellular activities; it functions as a cofactor for a variety of enzymes, including argi …
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To …
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lea …
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Arginase-1 deficiency.
Sin YY, Baron G, Schulze A, Funk CD. Sin YY, et al. J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14. J Mol Med (Berl). 2015. PMID: 26467175 Review.
Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. ...Lingering questions and future areas to be addressed relating to the clinical manifestations of ARG1 deficiency in …
Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impair …
Small-molecule arginase inhibitors.
Ivanenkov YA, Chufarova NV. Ivanenkov YA, et al. Pharm Pat Anal. 2014 Jan;3(1):65-85. doi: 10.4155/ppa.13.75. Pharm Pat Anal. 2014. PMID: 24354980 Review.
Arginase is an enzyme that metabolizes L-arginine to L-ornithine and urea. ...L-arginine deficiency, which is modulated by myeloid cell arginase, suppresses T-cell immune response. ...
Arginase is an enzyme that metabolizes L-arginine to L-ornithine and urea. ...L-arginine deficiency, which is modulated by mye …
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Bin Sawad A, Jackimiec J, Bechter M, Trucillo A, Lindsley K, Bhagat A, Uyei J, Diaz GA. Bin Sawad A, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):153-163. doi: 10.1016/j.ymgme.2022.08.005. Epub 2022 Aug 25. Mol Genet Metab. 2022. PMID: 36049366 Free article. Review.
BACKGROUND: Arginase 1 Deficiency (ARG1-D) is a rare, progressive, metabolic disorder that is characterized by devastating manifestations driven by elevated plasma arginine levels. ...Frequently reported diagnostic methods included genetic testing, plasma arginine l …
BACKGROUND: Arginase 1 Deficiency (ARG1-D) is a rare, progressive, metabolic disorder that is characterized by devastating man …
The role and control of arginine levels in arginase 1 deficiency.
Diaz GA, Bechter M, Cederbaum SD. Diaz GA, et al. J Inherit Metab Dis. 2023 Jan;46(1):3-14. doi: 10.1002/jimd.12564. Epub 2022 Oct 13. J Inherit Metab Dis. 2023. PMID: 36175366 Free PMC article. Review.
Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower …
Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct …
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP. Teive HAG, et al. Neurogenetics. 2022 Jul;23(3):167-177. doi: 10.1007/s10048-022-00688-3. Epub 2022 Apr 9. Neurogenetics. 2022. PMID: 35397036 Review.
This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synt …
This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive d …
Arginases and arginine deficiency syndromes.
Morris SM Jr. Morris SM Jr. Curr Opin Clin Nutr Metab Care. 2012 Jan;15(1):64-70. doi: 10.1097/MCO.0b013e32834d1a08. Curr Opin Clin Nutr Metab Care. 2012. PMID: 22037011 Free PMC article. Review.
PURPOSE OF REVIEW: Many physiologic and pathophysiologic processes are modulated by arginine availability, which can be regulated by arginase. An understanding of the conditions that result in elevated arginase activity as well as the consequences of arginine def …
PURPOSE OF REVIEW: Many physiologic and pathophysiologic processes are modulated by arginine availability, which can be regulated by argi …
The human arginases and arginase deficiency.
Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S. Iyer R, et al. J Inherit Metab Dis. 1998;21 Suppl 1:86-100. doi: 10.1023/a:1005313809037. J Inherit Metab Dis. 1998. PMID: 9686347 Review.
Arginase is the final enzyme in the urea cycle. Its deficiency is the least frequently described disorder of this cycle. It results primarily in elevated blood arginine, and less frequently in either persistent or acute elevations in blood ammonia. This appears to b …
Arginase is the final enzyme in the urea cycle. Its deficiency is the least frequently described disorder of this cycle. It re …
68 results