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

Year Number of Results
1993 2
1995 1
1998 1
1999 1
2002 1
2006 1
2007 1
2010 1
2011 1
2012 1
2014 1
2015 2
2016 2
2017 1
2018 1
2021 2
2022 2
2023 1
2024 0

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PubMed for id: 763

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Page 1
Carbonic Anhydrase VA Deficiency.
van Karnebeek C, Häberle J. van Karnebeek C, et al. 2015 Apr 2 [updated 2021 Aug 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Apr 2 [updated 2021 Aug 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25834911 Free Books & Documents. Review.
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.
18 results