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Results by year

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

Year Number of Results
2000 5
2001 10
2002 6
2003 6
2004 7
2005 10
2006 4
2007 5
2008 9
2009 9
2010 14
2011 15
2012 15
2013 17
2014 16
2015 22
2016 12
2017 12
2018 14
2019 24
2020 18
2021 19
2022 16
2023 6
2024 3

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253 results

Results by year

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Page 1
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW. Almannai M, et al. Molecules. 2019 Sep 6;24(18):3251. doi: 10.3390/molecules24183251. Molecules. 2019. PMID: 31500110 Free PMC article. Review.
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Martinelli D, Fiermonte G, Häberle J, Boenzi S, Goffredo BM, Travaglini L, Agolini E, Porcelli V, Dionisi-Vici C. Martinelli D, et al. Eur J Hum Genet. 2020 Jul;28(7):982-987. doi: 10.1038/s41431-020-0616-x. Epub 2020 Apr 2. Eur J Hum Genet. 2020. PMID: 32242103 Free PMC article. No abstract available.
The hyperinsulinism/hyperammonemia syndrome.
Palladino AA, Stanley CA. Palladino AA, et al. Rev Endocr Metab Disord. 2010 Sep;11(3):171-8. doi: 10.1007/s11154-010-9146-0. Rev Endocr Metab Disord. 2010. PMID: 20936362 Review.
Argininosuccinate lyase deficiency.
Nagamani SC, Erez A, Lee B. Nagamani SC, et al. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241104 Free PMC article. Review.
Urea cycle disorders.
Leonard JV, Morris AA. Leonard JV, et al. Semin Neonatol. 2002 Feb;7(1):27-35. doi: 10.1053/siny.2001.0085. Semin Neonatol. 2002. PMID: 12069536 Review.
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Soria LR, Makris G, D'Alessio AM, De Angelis A, Boffa I, Pravata VM, Rüfenacht V, Attanasio S, Nusco E, Arena P, Ferenbach AT, Paris D, Cuomo P, Motta A, Nitzahn M, Lipshutz GS, Martínez-Pizarro A, Richard E, Desviat LR, Häberle J, van Aalten DMF, Brunetti-Pierri N. Soria LR, et al. Nat Commun. 2022 Sep 5;13(1):5212. doi: 10.1038/s41467-022-32904-x. Nat Commun. 2022. PMID: 36064721 Free PMC article.
Significance of l-carnitine for human health.
Adeva-Andany MM, Calvo-Castro I, Fernández-Fernández C, Donapetry-García C, Pedre-Piñeiro AM. Adeva-Andany MM, et al. IUBMB Life. 2017 Aug;69(8):578-594. doi: 10.1002/iub.1646. Epub 2017 Jun 26. IUBMB Life. 2017. PMID: 28653367 Free article. Review.
253 results