1. Yang, Bo-Yun, Yu, Han-Xiao, Min, Jie, Song, Xiao-Xiao. 2019. A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature. In Clinical rheumatology, 39, 949-956. doi:10.1007/s10067-019-04801-0. https://pubmed.ncbi.nlm.nih.gov/31773495/
2. Rezende Filho, Flávio M, Palma, Mariana M, Pedroso, José Luiz, Barsottini, Orlando G, Sallum, Juliana M. 2021. PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women. In Neurology. Genetics, 7, e563. doi:10.1212/NXG.0000000000000563. https://pubmed.ncbi.nlm.nih.gov/33898739/
3. Mittal, Rahul, Patel, Kunal, Mittal, Jeenu, Grati, M'hamed, Liu, Xue Zhong. 2015. Association of PRPS1 Mutations with Disease Phenotypes. In Disease markers, 2015, 127013. doi:10.1155/2015/127013. https://pubmed.ncbi.nlm.nih.gov/26089585/
4. Liu, Tong, Wang, Zheng, Ye, Leiguang, Lu, Zhimin, Xu, Daqian. 2023. Nucleus-exported CLOCK acetylates PRPS to promote de novo nucleotide synthesis and liver tumour growth. In Nature cell biology, 25, 273-284. doi:10.1038/s41556-022-01061-0. https://pubmed.ncbi.nlm.nih.gov/36646788/
5. Becker, M A, Nosal, J M, Switzer, R L, Palella, T D, Roessler, B J. . Point mutations in PRPS1, the gene encoding the PRPP synthetase (PRS) 1 isoform, underlie X-linked PRS superactivity associated with purine nucleotide inhibitor-resistance. In Advances in experimental medicine and biology, 370, 707-10. doi:. https://pubmed.ncbi.nlm.nih.gov/7661003/
6. Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Delague, Valérie, Urtizberea, J Andoni. . A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. In Journal of neuromuscular diseases, 9, 193-210. doi:10.3233/JND-210652. https://pubmed.ncbi.nlm.nih.gov/34602496/
7. Shirakawa, Shunichi, Murakami, Tatsufumi, Hashiguchi, Akihiro, Ichida, Kimiyoshi, Sunada, Yoshihide. 2021. A Novel PRPS1 Mutation in a Japanese Patient with CMTX5. In Internal medicine (Tokyo, Japan), 61, 1749-1751. doi:10.2169/internalmedicine.8029-21. https://pubmed.ncbi.nlm.nih.gov/34803094/