{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:52:50Z","timestamp":1791082370290,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T00:00:00Z","timestamp":1428537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content> is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in <jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content> is mutation of the gene <jats:italic><jats:styled-content style=\"fixed-case\">ALAS<\/jats:styled-content>2<\/jats:italic>, resulting in gain of function for the erythroid enzyme 5\u2010aminolevulinate synthase 2. Previous reports have shown that protoporphyrin\u2010induced liver disease may also occur in <jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content>, occasionally severe enough to warrant liver transplantation; however, transplantation may be followed by injury to the graft due to continued presence of the underlying metabolic disorder in the bone marrow. We present a case of <jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content> with severe liver disease successfully treated with HPCT to avoid liver transplantation. The case also demonstrates the feasibility of reduced intensity transplant to provide engraftment sufficient for correction of porphyria and tolerability of reduced intensity conditioning containing TLI in the face of severe liver injury.<\/jats:p>","DOI":"10.1111\/petr.12472","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T09:34:20Z","timestamp":1428572060000},"source":"Crossref","is-referenced-by-count":9,"title":["Bone marrow transplant for <scp>X<\/scp>\u2010linked protoporphyria with severe hepatic fibrosis"],"prefix":"10.1111","volume":"19","author":[{"given":"David F.","family":"Butler","sequence":"first","affiliation":[{"name":"Department of Pediatrics Childrens Mercy Hospital Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin F.","family":"Ginn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Childrens Mercy Hospital Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Daniel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Childrens Mercy Hospital Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph R.","family":"Bloomer","sequence":"additional","affiliation":[{"name":"Department of Medicine UAB Birmingham AL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Kats","sequence":"additional","affiliation":[{"name":"Department of Pathology Childrens Mercy Hospital Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Shreve","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Childrens Mercy Hospital Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary D.","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Childrens Mercy Hospital Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,9]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Gene Reviews","author":"Balwani M"},{"key":"e_1_2_7_3_1","first-page":"457","volume-title":"Hematology: Basic Principles and Practice","author":"Fuller SJ","year":"2012"},{"key":"e_1_2_7_4_1","first-page":"84","article-title":"A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria","volume":"55","author":"Minder EI","year":"2009","journal-title":"Cell Mol Biol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12202"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/S0016-5085(19)32894-X","article-title":"Birefringence of hepatic pigment deposits in erythropoietic protoporphyria. Specificity of polarization microscopy in the identification of hepatic protoporphyrin deposits","volume":"67","author":"Klatskin G","year":"1974","journal-title":"Gastroenterology"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1981.tb01705.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.20620"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2009.01233.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0833"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2006.10.004"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2002.120460"},{"key":"e_1_2_7_13_1","first-page":"373","article-title":"Congenital sideroblastic anemia successfully treated with allogeneic bone marrow transplantation","volume":"10","author":"Urban C","year":"1992","journal-title":"Bone Marrow Transplant"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpetr.12472","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.12472","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:00:54Z","timestamp":1695571254000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.12472"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,9]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1111\/petr.12472"],"URL":"https:\/\/doi.org\/10.1111\/petr.12472","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"value":"1397-3142","type":"print"},{"value":"1399-3046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,9]]}}}