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

Year Number of Results
1996 2
1997 4
1998 2
1999 1
2000 3
2001 4
2002 5
2003 3
2004 3
2005 4
2006 4
2007 3
2008 3
2009 2
2010 1
2011 1
2013 1
2014 2
2024 0

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48 results

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Page 1
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.
Drosophila GGA model: an ultimate gateway to GGA analysis.
Eissenberg JC, Ilvarsonn AM, Sly WS, Waheed A, Krzyzanek V, Pohlmann R, Waschkau D, Kretzschmar D, Dennes AC. Eissenberg JC, et al. Traffic. 2011 Dec;12(12):1821-38. doi: 10.1111/j.1600-0854.2011.01285.x. Epub 2011 Oct 13. Traffic. 2011. PMID: 21923734 Free PMC article.
48 results