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

Year Number of Results
2002 2
2003 1
2004 1
2005 5
2006 4
2007 7
2008 4
2009 7
2010 11
2011 9
2012 12
2013 6
2014 5
2015 5
2016 7
2017 14
2018 13
2019 9
2020 4
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Page 1
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Baruteau J, et al. J Inherit Metab Dis 2017. Among authors: Waddington SN. PMID 28251416 Free PMC article.
RESULTS: Fifty-six patients were defined as early-onset (n = 23) if symptomatic < 28 days of age, late-onset (n = 23) if symptomatic later, or selectively screened perinatally due to a familial proband (n = 10). ...ASL was sequenced (n = 19) and 20 mutations were found. Plasma argininosuccinate was higher in early-onset compared to late-onset patients. ...
RESULTS: Fifty-six patients were defined as early-onset (n = 23) if symptomatic < 28 days of age, late-onset (n = 23) if sy …
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