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

Year Number of Results
1975 1
1977 1
1978 1
1980 1
1982 2
1983 1
1984 2
1986 3
1987 2
1988 2
1989 3
1990 4
1991 2
1992 2
1993 4
1994 2
1995 1
1996 4
1997 1
1999 1
2003 2
2007 2
2008 1
2010 3
2011 3
2012 4
2013 3
2014 5
2015 7
2016 6
2017 4
2018 6
2019 9
2020 6
2021 4
2022 4
2023 1
2024 0

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Similar articles for PMID: 20380929

96 results

Results by year

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Page 1
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S, Murakami T, Hashiguchi A, Takashima H, Hasegawa H, Ichida K, Sunada Y. Shirakawa S, et al. Intern Med. 2022 Jun 1;61(11):1749-1751. doi: 10.2169/internalmedicine.8029-21. Epub 2021 Nov 20. Intern Med. 2022. PMID: 34803094 Free PMC article.
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Lenherr N, Christodoulou J, Duley J, Dobritzsch D, Fairbanks L, Datta AN, Filges I, Gürtler N, Roelofsen J, van Kuilenburg ABP, Kemper C, West EE, Szinnai G, Huemer M. Lenherr N, et al. Mol Genet Metab Rep. 2021 Jan 20;26:100709. doi: 10.1016/j.ymgmr.2021.100709. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33532242 Free PMC article.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
96 results