{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:08:12Z","timestamp":1777594092784,"version":"3.51.4"},"reference-count":20,"publisher":"Japanese Society of Internal Medicine","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2018,7,1]]},"DOI":"10.2169\/internalmedicine.9496-17","type":"journal-article","created":{"date-parts":[[2018,2,8]],"date-time":"2018-02-08T17:19:13Z","timestamp":1518110353000},"page":"1905-1910","source":"Crossref","is-referenced-by-count":7,"title":["Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene"],"prefix":"10.2169","volume":"57","author":[{"given":"Ayako","family":"Yamamura","sequence":"first","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitaka","family":"Kikukawa","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"},{"name":"Division of Medical Oncology, Saiseikai Kumamoto Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Tokunaga","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiko","family":"Miyagawa","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinya","family":"Endo","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirosada","family":"Miyake","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Hata","sequence":"additional","affiliation":[{"name":"Division of Informative Clinical Sciences, Faculty of Medical Sciences, Kumamoto University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Mitsuya","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiro","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics, Department of Brain Disease Research, Shinshu University School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Matsuoka","sequence":"additional","affiliation":[{"name":"Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. 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":"2","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/neup.12149","volume":"35","author":"H Miyajima","year":"2015","unstructured":"2. Miyajima H. Aceruloplasminemia. Neuropathology 35: 83-90, 2015.","journal-title":"Neuropathology","ISSN":"https:\/\/id.crossref.org\/issn\/0919-6544","issn-type":"print"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249, 2010.","DOI":"10.1038\/nmeth0410-248"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 11: 863-874, 2001.","DOI":"10.1101\/gr.176601"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Matsushima A, Yoshida T, Yoshida K, et al. Superficial siderosis associated with aceruloplasminemia. Case report. J Neurol Sci 339: 231-234, 2014.","DOI":"10.1016\/j.jns.2014.02.014"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. 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":"7","doi-asserted-by":"crossref","unstructured":"7. 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":"8","doi-asserted-by":"crossref","unstructured":"8. Vachette P, Dainese E, Vasyliev VB, et al. A key structural role for active site type 3 copper ions in human ceruloplasmin. J Biol Chem 277: 40823-40831, 2002.","DOI":"10.1074\/jbc.M207188200"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Huff JD, Keung Y-K, Thakuri M, et al. Copper deficiency causes reversible myelodysplasia. Am J Hematol 82: 625-630, 2007.","DOI":"10.1002\/ajh.20864"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Harless W, Crowell E, Abraham J. Anemia and neutropenia associated with copper deficiency of unclear etiology. Am J Hematol 81: 546-549, 2006.","DOI":"10.1002\/ajh.20647"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Dalal N, Hooberman A, Mariani R, Sirota R, Lestingi T. Copper deficiency mimicking myelodysplastic syndrome. Clin Case Reports 3: 325-327, 2015.","DOI":"10.1002\/ccr3.207"},{"key":"12","doi-asserted-by":"publisher","unstructured":"12. Gregg XT. Copper deficiency masquerading as myelodysplastic syndrome. Blood 100: 1493-1495, 2002.","DOI":"10.1182\/blood-2002-01-0256"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Halfdanarson TR, Kumar N, Li CY, Phyliky RL, Hogan WJ. Hematological manifestations of copper deficiency: a retrospective review. Eur J Haematol 80: 523-531, 2008.","DOI":"10.1111\/j.1600-0609.2008.01050.x"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Breccia M, Voso MT, Aloe Spiriti MA, et al. An increase in hemoglobin, platelets and white blood cells levels by iron chelation as single treatment in multitransfused patients with myelodysplastic syndromes: clinical evidences and possible biological mechanisms. Ann Hematol 94: 771-777, 2015.","DOI":"10.1007\/s00277-015-2341-z"},{"key":"15","doi-asserted-by":"publisher","unstructured":"15. Ulinski T, Aoun B, Toubiana J, Vitkevic R, Bensman A, Donadieu J. Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss. Blood 113: 4820-4821, 2009.","DOI":"10.1182\/blood-2009-02-204099"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Bardou-jacquet E, Jouanolle A. Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form. Blood 114: 2360-2361, 2009.","DOI":"10.1182\/blood-2009-06-226175"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. 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":"18","doi-asserted-by":"crossref","unstructured":"18. Di Raimondo D, Pinto A, Tuttolomondo A, Fernandez P, Camaschella C, Licata G. Aceruloplasminemia: a case report. Intern Emerg Med 3: 395-399, 2008.","DOI":"10.1007\/s11739-008-0150-2"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Bosio S, De Gobbi M, Roetto A, et al. Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. Blood 100: 2246-2248, 2002.","DOI":"10.1182\/blood-2002-02-0584"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Jaiser SR, Winston GP. Copper deficiency myelopathy. J Neurol 257: 869-881, 2010.","DOI":"10.1007\/s00415-010-5511-x"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/57\/13\/57_9496-17\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,7,6]],"date-time":"2018-07-06T23:49:16Z","timestamp":1530920956000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/57\/13\/57_9496-17\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,1]]},"references-count":20,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.9496-17","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,1]]}}}