{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T13:41:14Z","timestamp":1774273274368,"version":"3.50.1"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Hematology"],"published-print":{"date-parts":[[2004,6,1]]},"DOI":"10.1532\/ijh97.03127","type":"journal-article","created":{"date-parts":[[2004,7,12]],"date-time":"2004-07-12T18:23:28Z","timestamp":1089656608000},"page":"448-456","source":"Crossref","is-referenced-by-count":19,"title":["Porphyrias in Japan: Compilation of All Cases Reported through 2002"],"prefix":"10.1007","volume":"79","author":[{"given":"Masao","family":"Kondo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuzo","family":"Yano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masuo","family":"Shirataka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gumpei","family":"Urata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Sassa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"E00001","unstructured":"Sassa S. The hematological aspects of porphyrias. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ, Seligson D, eds. Williams Hematology. 6th ed. New York, NY: McGraw-Hill; 2001:703-720."},{"key":"E00002","unstructured":"Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:2991-3062."},{"key":"E00003","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1289\/ehp.97105s137","author":"Daniell, WE","year":"1997","unstructured":"Daniell WE, Stockbridge HL, Labbe RF, et al. Environmental chemical exposures and disturbances of heme synthesis. Environ Health Perspect. 1997;105(suppl 1):37-53.","journal-title":"Environ Health Perspect"},{"key":"E00004","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s002040050120","author":"Jung, D","year":"1994","unstructured":"Jung D, Konietzko J, Reill-Konietzko G, et al. Porphyrin studies in TCDD-exposed workers. Arch Toxicol. 1994;68:595-598.","journal-title":"Arch Toxicol"},{"key":"E00005","first-page":"47","author":"Sato, A","year":"1920","unstructured":"Sato A, Takahashi H. Family anemia of a certain kind or an anemia of hemoglobinuria which is not yet reported. Acta Paediatr Jpn. 1920;239:47-48.","journal-title":"Acta Paediatr Jpn"},{"key":"E00006","first-page":"566","author":"Nishiura, M","year":"1960","unstructured":"Nishiura M, Takeda K, Tani T, Akasawa M. Porphyria cutanea tarda. Acta Dermatol. 1960;55:566-575.","journal-title":"Acta Dermatol"},{"key":"E00007","doi-asserted-by":"crossref","first-page":"3871","DOI":"10.1182\/blood.V98.13.3871","author":"Takeuchi, H","year":"2001","unstructured":"Takeuchi H, Kondo M, Daimon M, et al. Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. Blood. 2001;98: 3871-3873.","journal-title":"Blood"},{"key":"E00008","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1007\/BF01481493","author":"Doss, M","year":"1979","unstructured":"Doss M, von Tiepermann R, Schneider J, Schmid H. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr. 1979;57: 1123-1127.","journal-title":"Klin Wochenschr"},{"key":"E00009","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/0020-711X(80)90170-6","author":"Doss, M","year":"1980","unstructured":"Doss M, von Tiepermann R, Schneider J. Acute hepatic porphyria syndrome with porphobilinogen synthase defect. Int J Biochem. 1980;12:823-826.","journal-title":"Int J Biochem"},{"key":"E00010","first-page":"781","volume":"27","author":"Hassoun, A","year":"1989","unstructured":"Hassoun A, Verstraeten L, Mercelis R, Martin J-J. Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. J Clin Chem Clin Biochem. 1989;27: 781-786.","journal-title":"J Clin Chem Clin Biochem"},{"key":"E00011","first-page":"5","volume":"25","author":"Thunell, S","year":"1987","unstructured":"Thunell S, Holmberg L, Lundgren J.Aminolaevulinate dehydratase porphyria in infancy: a clinical and biochemical study. J Clin Chem Clin Biochem. 1987;25:5-14.","journal-title":"J Clin Chem Clin Biochem."},{"key":"E00012","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1172\/JCI115732","volume":"89","author":"Ishida, N","year":"1992","unstructured":"Ishida N, Fujita H, Fukuda Y, et al. Cloning and expression of the defective genes from a patient with 3-aminolevulinate dehydratase porphyria. J Clin Invest. 1992;89:1431-1437.","journal-title":"J Clin Invest"},{"key":"E00013","doi-asserted-by":"crossref","first-page":"3618","DOI":"10.1182\/blood.V96.10.3618","volume":"96","author":"Akagi, R","year":"2000","unstructured":"Akagi R, Nishitani C, Harigae H, et al. Molecular analysis of 3-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. Blood. 2000;96:3618-3623.","journal-title":"Blood"},{"key":"E00014","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/hep.510310321","volume":"31","author":"Akagi, R","year":"2000","unstructured":"Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S. Novel molecular defects of the 3-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. Hepatology. 2000;31: 704-708.","journal-title":"Hepatology"},{"key":"E00015","doi-asserted-by":"crossref","first-page":"2972","DOI":"10.1182\/blood.V97.10.2972","volume":"97","author":"Maruno, M","year":"2001","unstructured":"Maruno M, Furuyama K, Akagi R, et al. Highly heterogeneous nature of 3-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. Blood. 2001;97:2972-2978.","journal-title":"Blood"},{"key":"E00016","first-page":"23","volume":"41","author":"Muraoka, A","year":"1995","unstructured":"Muraoka A, Suehiro I, Fujii M, Murakami K. 3-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. Kobe J Med Sci. 1995;41:23-31.","journal-title":"Kobe J Med Sci"},{"key":"E00017","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0268-960X(96)90020-X","author":"Sassa, S","year":"1996","unstructured":"Sassa S. Diagnosis and therapy of acute intermittent porphyria. Blood Rev. 1996;10:53-58.","journal-title":"Blood Rev"},{"key":"E00018","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1046\/j.1365-2141.1999.01647.x","volume":"106","author":"Akagi, R","year":"1999","unstructured":"Akagi R, Yasui Y, Harper P, Sassa S. A novel mutation of 3-amino-laevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. Br J Haematol. 1999;106:931-937.","journal-title":"Br J Haematol"},{"key":"E00019","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/0190-9622(92)70182-F","author":"Lim, HW","year":"1992","unstructured":"Lim HW, Cooper D, Sassa S, Dosik H, Buchness MR, Soter NA. Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. J Am Acad Dermatol. 1992;27:287-292.","journal-title":"J Am Acad Dermatol"},{"key":"E00020","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1182\/blood.V59.3.628.628","author":"Romslo, I","year":"1982","unstructured":"Romslo I, Brun A, Sandberg S, Bottomley SS, Hovding G, Talstad I. Sideroblastic anemia with markedly increased free erythrocyte protoporphyrin without dermal photosensitivity. Blood. 1982;59: 628-633.","journal-title":"Blood"},{"key":"E00021","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1056\/NEJM196903132801104","author":"Rothstein, G","year":"1969","unstructured":"Rothstein G, Lee R, Cartwright GE. Sideroblastic anemia with dermal photosensitivity and greatly increased erythrocyte protoporphyrin. N Engl J Med. 1969;280:587-590.","journal-title":"N Engl J Med"},{"key":"E00022","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0002-9343(73)90230-1","author":"Scott, AJ","year":"1973","unstructured":"Scott AJ, Ansford AJ, Webster BH, Stringer HC. Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med. 1973;54:251-259.","journal-title":"Am J Med"},{"key":"E00023","first-page":"33","author":"Hashimoto, K","year":"1966","unstructured":"Hashimoto K, Kanie T, Mibu K, Okumura E. Protoporphyria erythropoietica: on blood cell abnormality in an autopsied patient [in Japanese] [abstract]. Rinsho Ketsueki. 1966;7:33.","journal-title":"Rinsho Ketsueki"},{"key":"E00024","doi-asserted-by":"crossref","first-page":"956","DOI":"10.2169\/naika.56.956","volume":"56","author":"Takasaki, H","year":"1967","unstructured":"Takasaki H. Symposium on clinical aspects on porphyrias, 2: epidemiologic and clinical studies on hepatic porphyria [in Japanese]. Nippon Naika Gakkai Zasshi. 1967;56:956-959.","journal-title":"Nippon Naika Gakkai Zasshi"},{"key":"E00025","first-page":"135","author":"Kordac, V","year":"1972","unstructured":"Kordac V. Frequency of occurrence of hepatocellular carcinoma in patients with porphyria cutanea tarda in long-term follow-up. Neoplasma. 1972;19:135-139.","journal-title":"Neoplasma"},{"key":"E00026","first-page":"404","author":"English, JC","year":"1996","unstructured":"English JC, Peake MF, Becker LE. Hepatitis C and porphyria cutanea tarda. Cutis. 1996;57:404-408.","journal-title":"Cutis"},{"key":"E00027","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1002\/hep.510270329","author":"Lamoril, J","year":"1998","unstructured":"Lamoril J, Andant C, Bogard C, et al. Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. Hepatology. 1998;27:848-852.","journal-title":"Hepatology"},{"key":"E00028","first-page":"248","author":"Sampietro, M","year":"1999","unstructured":"Sampietro M, Fiorelli G, Fargion S. Iron overload in porphyria cutanea tarda. Haematologica. 1999;84:248-253.","journal-title":"Haematologica"},{"key":"E00029","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1182\/blood.V95.5.1565.005k42_1565_1571","author":"Bulaj, ZJ","year":"2000","unstructured":"Bulaj ZJ, Phillips JD,Ajioka RS, et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood. 2000;95:1565-1571.","journal-title":"Blood"},{"key":"E00030","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1002\/hep.510300627","author":"Furuyama, K","year":"1999","unstructured":"Furuyama K, Kondo M, Hirata K, Fujita H, Sassa S. Extremely rare association of HFE mutations with porphyria cutanea tarda in Japanese patients. Hepatology. 1999;30:1532-1533.","journal-title":"Hepatology"},{"key":"E00031","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/0009-8981(87)90346-9","author":"Horie, Y","year":"1987","unstructured":"Horie Y, Udagawa M, Hirayama C. Clinical usefulness of cimetidine for the treatment of acute intermittent porphyria: a preliminary report. Clin Chim Acta. 1987;167:267-271.","journal-title":"Clin Chim Acta"},{"key":"E00032","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0009-8981(94)05989-6","author":"Horie, Y","year":"1995","unstructured":"Horie Y, Norimoto M, Tajima F, Sasaki H, Nanba E, Kawasaki H. Clinical usefulness of cimetidine treatment for acute relapse in intermittent porphyria. Clin Chim Acta. 1995;234:171-175.","journal-title":"Clin Chim Acta"},{"key":"E00033","doi-asserted-by":"crossref","first-page":"717","DOI":"10.2169\/internalmedicine.35.717","author":"Horie, Y","year":"1996","unstructured":"Horie Y, Tanaka K, Okano J, et al. Cimetidine in the treatment of porphyria cutanea tarda. Int Med. 1996;35:717-719.","journal-title":"Int Med"},{"key":"E00034","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/0020-711X(80)90173-1","volume":"12","author":"Eales, L","year":"1980","unstructured":"Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem. 1980;12: 837-853.","journal-title":"Int J Biochem"},{"key":"E00035","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1055\/s-2007-1007138","volume":"18","author":"Kirsch, RE","year":"1998","unstructured":"Kirsch RE, Meissner PN, Hift RJ.Variegate porphyria. Semin Liver Dis. 1998;18:33-41.","journal-title":"Semin Liver Dis."},{"key":"E00036","unstructured":"Goldberg A, Rimington C. Diseases of Porphyrin Metabolism. Springfield, Ill: Charles C. Thomas; 1962."},{"key":"E00037","first-page":"10912","author":"Lee, JS","year":"1991","unstructured":"Lee JS, Anvret M. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sci U S A. 1991; 88:10912-10915.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"E00038","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/hep.510260139","author":"Kondo, M","year":"1997","unstructured":"Kondo M, Horie Y, Okano J, et al. High prevalence of hepatitis C virus infection in Japanese patients with porphyria cutanea tarda. Hepatology. 1997;26:246.","journal-title":"Hepatology"},{"key":"E00039","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1258\/0956462991912944","author":"Mansourati, FF","year":"1999","unstructured":"Mansourati FF, Stone VE, Mayer KH. Porphyria cutanea tarda and HIV\/AIDS: a review of pathogenesis, clinical manifestations and management. Int J STD AIDS. 1999;10:51-56.","journal-title":"Int J STD AIDS"},{"key":"E00040","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1089\/apc.1998.12.341","author":"O'Connor, WJ","year":"1998","unstructured":"O'Connor WJ. Porphyria cutanea tarda and HIV: two cases associated with hepatitis C. AIDS Patient Care STDS. 1998;12:341-346.","journal-title":"AIDS Patient Care STDS"}],"container-title":["International Journal of Hematology"],"original-title":[],"link":[{"URL":"http:\/\/www.springerlink.com\/index\/pdf\/10.1532\/IJH97.03127","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T18:20:03Z","timestamp":1585851603000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1532\/IJH97.03127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,1]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,6,1]]}},"alternative-id":["KNL8MGVMTJL5UB8R"],"URL":"https:\/\/doi.org\/10.1532\/ijh97.03127","relation":{},"ISSN":["0925-5710"],"issn-type":[{"value":"0925-5710","type":"print"}],"subject":[],"published":{"date-parts":[[2004,6,1]]}}}