{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T12:33:37Z","timestamp":1784550817394,"version":"3.55.0"},"reference-count":27,"publisher":"Japanese Society of Internal Medicine","issue":"18","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2018,9,15]]},"DOI":"10.2169\/internalmedicine.9855-17","type":"journal-article","created":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T18:25:19Z","timestamp":1524767119000},"page":"2713-2718","source":"Crossref","is-referenced-by-count":11,"title":["Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy"],"prefix":"10.2169","volume":"57","author":[{"given":"Maki","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Ohyama","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"},{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunobu","family":"Nosaki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsushige","family":"Iwai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Kono","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Hamamatsu University School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Miyajima","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Hamamatsu University School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Mokuno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toyohashi Municipal Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"publisher","unstructured":"1. Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 37: 761-767, 1987.","DOI":"10.1212\/WNL.37.5.761"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 92: 2539-2543, 1995.","DOI":"10.1073\/pnas.92.7.2539"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 9: 267-272, 1995.","DOI":"10.1038\/ng0395-267"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Morita H, Ikeda S, Yamamoto K, et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 37: 646-656, 1995.","DOI":"10.1002\/ana.410370515"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Kono S. Aceruloplasminemia: an update. Int Rev Neurobiol 110: 125-151, 2013.","DOI":"10.1016\/B978-0-12-410502-7.00007-7"},{"key":"6","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/neup.12149","volume":"35","author":"H Miyajima","year":"2015","unstructured":"6. Miyajima H. Aceruloplasminemia. Neuropathology 35: 83-90, 2015.","journal-title":"Neuropathology","ISSN":"https:\/\/id.crossref.org\/issn\/0919-6544","issn-type":"print"},{"key":"7","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1212\/WNL.53.3.617","volume":"53","author":"H Miyajima","year":"1999","unstructured":"7. Miyajima H, Kohno S, Takahashi Y, Yonekawa O, Kanno T. Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology 53: 617-619, 1999.","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Suzuki Y, Yoshida K, Aburakawa Y, et al. Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. Intern Med 52: 1527-1530, 2013.","DOI":"10.2169\/internalmedicine.52.0102"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Yazaki M, Yoshida K, Nakamura A, et al. A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. J Neurol Sci 156: 30-34, 1998.","DOI":"10.1016\/S0022-510X(98)00015-X"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Hatanaka Y, Okano T, Oda K, Yamamoto K, Yoshida K. Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. Intern Med 42: 599-604, 2003.","DOI":"10.2169\/internalmedicine.42.599"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Miyajima H, Takahashi Y, Kono S, Hishida A, Ishikawa K, Sakamoto M. Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. J Neurol 252: 996-997, 2005.","DOI":"10.1007\/s00415-005-0796-x"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Hida A, Kowa H, Iwata A, Tanaka M, Kwak S, Tsuji S. Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. J Neurol Sci 298: 136-139, 2010.","DOI":"10.1016\/j.jns.2010.08.019"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ogimoto M, Anzai K, Takenoshita H, et al. Criteria for early identification of aceruloplasminemia. Intern Med 50: 1415-1418, 2011.","DOI":"10.2169\/internalmedicine.50.5108"},{"key":"14","doi-asserted-by":"publisher","unstructured":"14. Fujita K, Osaki Y, Harada M, et al. Brain and liver iron accumulation in aceruloplasminemia. Neurology 81: 2145-2146, 2013.","DOI":"10.1212\/01.wnl.0000437304.30227.bd"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Tai M, Matsuhashi N, Ichii O, et al. Case of presymptomatic aceruloplasminemia treated with deferasirox. Hepatol Res 44: 1253-1258, 2014.","DOI":"10.1111\/hepr.12292"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Nagata S, Ikegaya N, Ogino S, et al. The resection of thyroid cancer was associated with the resolution of hyporesponsiveness to an erythropoiesis-stimulating agent in a hemodialysis patient with aceruloplasminemia. Intern Med 56: 805-810, 2017.","DOI":"10.2169\/internalmedicine.56.7455"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Kohno S, Miyajima H, Takahashi Y, Inoue Y. Aceruloplasminemia with a novel mutation associated with parkinsonism. Neurogenetics 2: 237-238, 2000.","DOI":"10.1007\/s100489900082"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Kuhn J, Bewermeyer H, Miyajima H, Takahashi Y, Kuhn KF, Hoogenraad TU. Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. Brain Dev 29: 450-453, 2007.","DOI":"10.1016\/j.braindev.2007.01.001"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Miyajima H, Takahashi Y, Kamata T, Shimizu H, Sakai N, Gitlin JD. Use of desferrioxamine in the treatment of aceruloplasminemia. Ann Neurol 41: 404-407, 1997.","DOI":"10.1002\/ana.410410318"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Skidmore FM, Drago V, Foster P, Schmalfuss IM, Heilman KM, Streiff RR. Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation. J Neurol Neurosurg Psychiatry 79: 467-470, 2008.","DOI":"10.1136\/jnnp.2007.120568"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Bove F, Fasano A. Iron chelation therapy to prevent the manifestations of aceruloplasminemia. Neurology 85: 1085-1086, 2015.","DOI":"10.1212\/WNL.0000000000001956"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Finkenstedt A, Wolf E, Hofner E, et al. Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. J Hepatol 53: 1101-1107, 2010.","DOI":"10.1016\/j.jhep.2010.04.039"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Roberti Mdo R, Borges Filho HM, Goncalves CH, Lima FL. Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. Rev Bras Hematol Hemoter 33: 389-392, 2011.","DOI":"10.5581\/1516-8484.20110104"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Brissot P, Troadec MB, Bardou-Jacquet E, et al. Current approach to hemochromatosis. Blood Rev 22: 195-210, 2008.","DOI":"10.1016\/j.blre.2008.03.001"},{"key":"25","unstructured":"25. Bethlehem C, van Harten B, Hoogendoorn M. Central nervous system involvement in a rare genetic iron overload disorder. Neth J Med 68: 316-318, 2010."},{"key":"26","unstructured":"26. Lozano-Varela M, Carrera-Alonso E, Plaza-Palacios G. Aceruloplasminemia: an entity to consider in patients with anemia. Rev Esp Enferm Dig 106: 360-361, 2014."},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Vroegindeweij LH, van der Beek EH, Boon AJ, et al. Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. Diabet Med 32: 993-1000, 2015.","DOI":"10.1111\/dme.12712"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/57\/18\/57_9855-17\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,9,16]],"date-time":"2018-09-16T01:16:51Z","timestamp":1537060611000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/57\/18\/57_9855-17\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,15]]},"references-count":27,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.9855-17","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,15]]}}}