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

Year Number of Results
1981 1
1990 1
1993 1
1995 1
1996 2
1997 3
1998 1
1999 1
2002 4
2003 5
2004 3
2005 3
2006 7
2009 1
2010 3
2011 4
2012 4
2013 1
2014 8
2015 5
2016 1
2017 3
2018 4
2019 8
2020 8
2021 8
2022 6
2023 3
2024 1

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PubMed for id: 8050

90 results

Results by year

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Page 1
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L. Ivanov IS, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25087164 Free article.
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK. Brown RM, et al. Dev Med Child Neurol. 2006 Sep;48(9):756-60. doi: 10.1017/S0012162206001617. Dev Med Child Neurol. 2006. PMID: 16904023 Free article.
Leigh's disease due to a new mutation in the PDHX gene.
Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H. Schiff M, et al. Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818. Ann Neurol. 2006. PMID: 16566017
90 results