{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T02:42:30Z","timestamp":1761446550152,"version":"build-2065373602"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,25]]},"DOI":"10.7759\/cureus.95410","type":"journal-article","created":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T02:33:25Z","timestamp":1761446005000},"source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal"],"prefix":"10.7759","author":[{"given":"Tej P","family":"Shah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Sidlow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prem K","family":"Sah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"Diabetes mellitus and simple optic atrophy among siblings: report of four cases","volume":"13","author":"Wolfram DJ","year":"1938","unstructured":"Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc. 1938, 13:715-8.","journal-title":"Mayo Clin Proc"},{"key":"ref2","article-title":"Wolfram syndrome: a case report","volume":"8","author":"Mishra Y","year":"2024","unstructured":"Mishra Y. Wolfram syndrome: a case report. Clin Case Rep Int. 2024, 8:1656.","journal-title":"Clin Case Rep Int"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92473-6","article-title":"Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome","volume":"346","author":"Barrett TG","year":"1995","unstructured":"Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995, 346:1458-63. 10.1016\/S0140-6736(95)92473-6","journal-title":"Lancet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.18.12.1566","article-title":"Morbidity and mortality in the Wolfram syndrome","volume":"18","author":"Kinsley BT","year":"1995","unstructured":"Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care. 1995, 18:1566-70. 10.2337\/diacare.18.12.1566","journal-title":"Diabetes Care"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/2441","article-title":"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)","volume":"20","author":"Inoue H","year":"1998","unstructured":"Inoue H, Tanizawa Y, Wasson J, et al.. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998, 20:143-8. 10.1038\/2441","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-13-130","article-title":"EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstr\u00f6m syndrome and Bardet-Biedl syndrome","volume":"13","author":"Farmer A","year":"2013","unstructured":"Farmer A, Aym\u00e9 S, de Heredia ML, et al.. EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstr\u00f6m syndrome and Bardet-Biedl syndrome. BMC Pediatr. 2013, 13:130. 10.1186\/1471-2431-13-130","journal-title":"BMC Pediatr"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.180","article-title":"Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype","volume":"15","author":"de Heredia ML","year":"2013","unstructured":"de Heredia ML, Cl\u00e8ries R, Nunes V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genet Med. 2013, 15:497-506. 10.1038\/gim.2012.180","journal-title":"Genet Med"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-015-0702-6","article-title":"Wolfram syndrome: diagnosis, management, and treatment","volume":"16","author":"Urano F","year":"2016","unstructured":"Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep. 2016, 16:6. 10.1007\/s11892-015-0702-6","journal-title":"Curr Diab Rep"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-005-1947-4","article-title":"Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis","volume":"48","author":"Riggs AC","year":"2005","unstructured":"Riggs AC, Bernal-Mizrachi E, Ohsugi M, et al.. Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis. Diabetologia. 2005, 48:2313-21. 10.1007\/s00125-005-1947-4","journal-title":"Diabetologia"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-019-1993-1","article-title":"Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives","volume":"17","author":"Pallotta MT","year":"2019","unstructured":"Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, Esposito S. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives. J Transl Med. 2019, 17:238. 10.1186\/s12967-019-1993-1","journal-title":"J Transl Med"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.5.477","article-title":"WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain","volume":"10","author":"Takeda K","year":"2001","unstructured":"Takeda K, Inoue H, Tanizawa Y, et al.. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet. 2001, 10:477-84. 10.1093\/hmg\/10.5.477","journal-title":"Hum Mol Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M310331200","article-title":"Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium","volume":"278","author":"Osman AA","year":"2003","unstructured":"Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J Biol Chem. 2003, 278:52755-62. 10.1074\/jbc.M310331200","journal-title":"J Biol Chem"},{"key":"ref13","unstructured":"WashU Medicine. Wolfram Syndrome International Registry & Clinical Study. Washington University in St. Louis. (2025). Accessed. September 28, 2025: https:\/\/wolframsyndrome.wustl.edu\/."},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-019-0661-8","article-title":"Family reflections: our family's journey with Wolfram syndrome","volume":"87","author":"Lynch T","year":"2020","unstructured":"Lynch T. Family reflections: our family's journey with Wolfram syndrome. Pediatr Res. 2020, 87:608. 10.1038\/s41390-019-0661-8","journal-title":"Pediatr Res"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/416445-a-rare-case-of-wolfram-syndrome-in-a-27-year-old-male-from-nepal","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T02:33:28Z","timestamp":1761446008000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/416445-a-rare-case-of-wolfram-syndrome-in-a-27-year-old-male-from-nepal"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,25]]},"references-count":14,"URL":"https:\/\/doi.org\/10.7759\/cureus.95410","relation":{},"ISSN":["2168-8184"],"issn-type":[{"type":"print","value":"2168-8184"}],"subject":[],"published":{"date-parts":[[2025,10,25]]}}}