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

Year Number of Results
1958 1
1961 1
1964 1
1967 1
1968 1
1970 1
1973 1
1976 2
1978 2
1979 2
1980 1
1981 1
1984 1
1986 1
1990 2
1991 1
1992 1
1998 1
2002 2
2007 1
2010 1
2012 1
2013 1
2014 1
2018 2
2020 1
2024 0

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PubMed (cited) for id: 207900

32 results

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Page 1
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.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Kho J, et al. Am J Hum Genet. 2018 Aug 2;103(2):276-287. doi: 10.1016/j.ajhg.2018.07.008. Am J Hum Genet. 2018. PMID: 30075114 Free PMC article. Clinical Trial.
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.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
32 results