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

Year Number of Results
1967 2
1968 1
1972 1
1974 2
1982 1
1985 1
1986 1
1987 1
1988 1
1993 2
1996 1
1998 1
1999 4
2000 4
2001 3
2002 2
2003 1
2004 4
2005 5
2006 5
2007 2
2008 2
2009 4
2010 5
2011 6
2012 7
2013 16
2014 14
2015 13
2016 16
2017 7
2018 10
2019 7
2020 9
2021 15
2022 19
2023 24
2024 5

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203 results

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Page 1
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.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
Mitochondrial translation defects and human disease.
Webb BD, Diaz GA, Prasun P. Webb BD, et al. Among authors: diaz ga. J Transl Genet Genom. 2020;4:71-80. doi: 10.20517/jtgg.2020.11. Epub 2020 May 23. J Transl Genet Genom. 2020. PMID: 33426504 Free PMC article.
A longitudinal study of urea cycle disorders.
Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium. Batshaw ML, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. doi: 10.1016/j.ymgme.2014.08.001. Epub 2014 Aug 10. Mol Genet Metab. 2014. PMID: 25135652 Free PMC article. Review.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 Free PMC article.
Phytohormones Trigger Drought Tolerance in Crop Plants: Outlook and Future Perspectives.
Iqbal S, Wang X, Mubeen I, Kamran M, Kanwal I, Díaz GA, Abbas A, Parveen A, Atiq MN, Alshaya H, Zin El-Abedin TK, Fahad S. Iqbal S, et al. Among authors: diaz ga. Front Plant Sci. 2022 Jan 13;12:799318. doi: 10.3389/fpls.2021.799318. eCollection 2021. Front Plant Sci. 2022. PMID: 35095971 Free PMC article. Review.
203 results