{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:31:12Z","timestamp":1762864272085},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,12,25]],"date-time":"2001-12-25T00:00:00Z","timestamp":1009238400000},"content-version":"vor","delay-in-days":693,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Internal Medicine"],"published-print":{"date-parts":[[2000,2]]},"abstract":"<jats:p><jats:bold>Abstract.<\/jats:bold> Sassa S, Kappas A (The Rockefeller University, New York, USA). Molecular aspects of the inherited porphyrias (Review). <jats:italic>J Intern Med<\/jats:italic> 2000; <jats:bold>247:<\/jats:bold> 169\u2013178.<\/jats:p><jats:p>The porphyrias are diseases due to marked deficiencies of enzymes of the haem biosynthetic pathway ( <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#f1\">Fig.\u20031<\/jats:ext-link>). Except for the first enzyme of the pathway, \u03b4\u2010aminolevulinate synthase (ALAS), deficiencies in seven other enzymes are associated with the various forms of porphyria \n\t\t\t\t\t(\n\t\t\t\t\t<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#f2\">Fig.\u20032<\/jats:ext-link>). Porphyrias can be classified as either hepatic or erythroid, depending on the major site of production of porphyrins or their precursors. The pathogenesis of all inherited porphyrias has now been defined at the molecular level, and it is clear that there is a great deal of genetic heterogeneity in each porphyria [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#b1\">1<\/jats:ext-link>].<\/jats:p><jats:p><jats:fig><jats:caption><jats:p>Structure of major porphyrins: (a) uroporphyrin III; (b) corpoporphyrin III; (c) protoporphyrin IX.<\/jats:p><\/jats:caption><jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" position=\"anchor\" xlink:href=\"urn:x-wiley:09546820:media:JOIM618:JOIM_618_f1\"><jats:alt-text>image<\/jats:alt-text><\/jats:graphic><\/jats:fig><\/jats:p><jats:p><jats:fig><jats:caption><jats:p>Diseases due to enzymatic deficiency of the haem biosynthetic pathway. XLSA, X\u2010linked sideroblastic anaemia; Zn\u2010PP, zinc protoporphyrin IX; Free PP, free protoporphyrin IX; 7\u2010C porphyrin, 7\u2010carboxylate porphyrin. Other abbreviations are defined in the text.<\/jats:p><\/jats:caption><jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" position=\"anchor\" xlink:href=\"urn:x-wiley:09546820:media:JOIM618:JOIM_618_f2\"><jats:alt-text>image<\/jats:alt-text><\/jats:graphic><\/jats:fig><\/jats:p>","DOI":"10.1046\/j.1365-2796.2000.00618.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T06:10:31Z","timestamp":1047449431000},"page":"169-178","source":"Crossref","is-referenced-by-count":64,"title":["Molecular aspects of the inherited porphyrias"],"prefix":"10.1111","volume":"247","author":[{"given":"S.","family":"Sassa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kappas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,12,25]]},"reference":[{"key":"e_1_2_9_2_2","first-page":"2103","volume-title":"The Metabolic and Molecular Basis of Inherited Disease.","author":"Kappas A","year":"1995"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi982137w"},{"key":"e_1_2_9_4_2","first-page":"95","volume-title":"Seminars in Liver Disease.","author":"Sassa S.","year":"1998"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.1.6"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/515455"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/pro.5560031004"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0296-195"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1005"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1007143"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005365008147"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1325"},{"key":"e_1_2_9_13_2","doi-asserted-by":"crossref","first-page":"3436","DOI":"10.1182\/blood.V92.9.3436","article-title":"Differential regulation of mouse coproporphyrinogen oxidase gene expression in erythroid and non\u2010erythroid cells.","volume":"92","author":"Takahashi S","year":"1998","journal-title":"Blood"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.1337"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-95"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/301870"},{"key":"e_1_2_9_17_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00168a003"},{"key":"e_1_2_9_18_2","doi-asserted-by":"crossref","first-page":"7062","DOI":"10.1016\/S0021-9258(17)37245-9","article-title":"Mammalian ferrochelatase, a new addition to the metalloenzyme family.","volume":"269","author":"Ferreira GC","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_9_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-2126(97)00299-2"},{"key":"e_1_2_9_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(94)90077-9"},{"key":"e_1_2_9_21_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1242"},{"key":"e_1_2_9_22_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115491"}],"container-title":["Journal of Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2796.2000.00618.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1046\/j.1365-2796.2000.00618.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,29]],"date-time":"2023-10-29T17:47:04Z","timestamp":1698601624000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1046\/j.1365-2796.2000.00618.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,2]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2000,2]]}},"alternative-id":["10.1046\/j.1365-2796.2000.00618.x"],"URL":"https:\/\/doi.org\/10.1046\/j.1365-2796.2000.00618.x","archive":["Portico"],"relation":{},"ISSN":["0954-6820","1365-2796"],"issn-type":[{"value":"0954-6820","type":"print"},{"value":"1365-2796","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,2]]}}}