{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:50:35Z","timestamp":1787061035876,"version":"build-2736575974"},"reference-count":7,"publisher":"Japanese Society of Internal Medicine","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2022,6,1]]},"DOI":"10.2169\/internalmedicine.8029-21","type":"journal-article","created":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T17:09:38Z","timestamp":1637341778000},"page":"1749-1751","source":"Crossref","is-referenced-by-count":6,"title":["A Novel PRPS1 Mutation in a Japanese Patient with CMTX5"],"prefix":"10.2169","volume":"61","author":[{"given":"Shunichi","family":"Shirakawa","sequence":"first","affiliation":[{"name":"Department of Neurology, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsufumi","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Hashiguchi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Takashima","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, School of Pharmacy, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyoshi","family":"Ichida","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, School of Pharmacy, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihide","family":"Sunada","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Kim HJ, Sohn KM, Shy ME, et al. Mutations in <i>PRPS1<\/i>, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5). Am J Hum Genet 81: 552-558, 2007.","DOI":"10.1086\/519529"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Micheli V, Rocchigiani M, Pompucci G. An HPLC-linked assay of phosphoribosylpyrophosphate synthetase activity in the erythrocytes of adults and children with neurological disorders. Clin Chim Acta 227: 79-86, 1994.","DOI":"10.1016\/0009-8981(94)90137-6"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Park J, Hyun YS, Kim YJ, et al. Exome sequencing reveals a novel <i>PRPS1<\/i> mutation in a family with CMTX5 without optic atrophy. J Clin Neurol 9: 283-288, 2013.","DOI":"10.3988\/jcn.2013.9.4.283"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Almoguera B, He S, Corton M, et al. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Orphanet J Rare Dis 9: 190, 2014.","DOI":"10.1186\/s13023-014-0190-9"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Matthis S, Jennifer MH, Tobias BH, et al. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel <i>PRPS1<\/i> mutation. Orphanet J Rare Dis 9: 24, 2014.","DOI":"10.1186\/1750-1172-9-24"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Robusto M, Fang M, Asselta R, et al. The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. Eur J Hum Genet 23: 766-773, 2015.","DOI":"10.1038\/ejhg.2014.168"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Nishikura N, Yamagata T, Morimune T, et al. X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. Brain Dev 41: 201-204, 2019.","DOI":"10.1016\/j.braindev.2018.08.006"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/61\/11\/61_8029-21\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T23:31:23Z","timestamp":1654299083000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/61\/11\/61_8029-21\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,1]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.8029-21","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,1]]},"article-number":"8029-21"}}