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Results by year

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

Year Number of Results
1972 1
1974 1
1975 3
1976 9
1977 2
1978 3
1979 6
1980 7
1981 1
1982 4
1983 2
1984 8
1985 4
1986 9
1987 4
1988 4
1989 2
1990 5
1991 7
1992 3
1993 8
1994 2
1995 8
1996 7
1997 4
1999 4
2000 2
2001 7
2002 7
2003 3
2004 6
2005 8
2006 8
2007 8
2008 6
2009 8
2010 3
2011 9
2012 10
2013 12
2014 9
2015 10
2016 10
2017 8
2018 12
2019 20
2020 14
2021 15
2022 8
2023 16
2024 9

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PubMed for id: 78687

318 results

Results by year

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Page 1
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.
Nagayoshi Y, Nakayama M, Nagano H, Morikawa K, Nishi M, Nishihara T, Sakaino N, Kawano H, Tsujita K, Mitsubuchi H. Nagayoshi Y, et al. Am J Cardiol. 2023 Apr 1;192:155-159. doi: 10.1016/j.amjcard.2023.01.036. Epub 2023 Feb 18. Am J Cardiol. 2023. PMID: 36807131
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, 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. Hum Mutat. 2020 May;41(5):946-960. doi: 10.1002/humu.23983. Epub 2020 Jan 30. Hum Mutat. 2020. PMID: 31943503 Free PMC article.
318 results