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

Year Number of Results
1980 1
1992 1
1993 2
1998 2
2000 1
2001 1
2002 2
2003 1
2004 1
2005 2
2007 1
2008 3
2010 1
2012 2
2013 5
2014 4
2015 2
2016 2
2017 1
2018 3
2019 3
2020 1
2021 1
2022 2
2023 1
2024 0

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PubMed for id: 374254

36 results

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Page 1
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Kim HJ, et al. Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17701900 Free PMC article.
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.
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Mittal R, et al. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24. Dis Markers. 2015. PMID: 26089585 Free PMC article. Review.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Almoguera B, et al. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. Orphanet J Rare Dis. 2014. PMID: 25491489 Free PMC article.
36 results