{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:24:02Z","timestamp":1773271442525,"version":"3.50.1"},"reference-count":90,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children. Despite similar disease specific indications, the actual spectrum of diseases for which transplantation is used differs between these age groups and this is partly related to the natural history of disease. There are diseases (such as urea cycle defects and X\u2010linked adrenoleukodystrophy) for which transplantation is recommended for selected symptomatic patients as a treatment strategy in both adults and children. In those diseases, the frequency with which transplantation is used in adults is lower than in children and this may be related in part to a reduced awareness of transplantation as a treatment strategy amongst adult clinicians as well as limited donor availability and allocation policies which may disadvantage adult patients with IMDs. Risks of transplantation and disease\u2010specific prognostic factors influencing outcomes also differ with age. We review the use of transplantation as a disease modifying strategy in adults focusing on how this differs from use in children to highlight areas for future research.<\/jats:p>","DOI":"10.1007\/s10545-018-0141-z","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T05:35:53Z","timestamp":1517463353000},"page":"885-896","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Transplantation as disease modifying therapy in adults with inherited metabolic disorders"],"prefix":"10.1002","volume":"41","author":[{"given":"Sandra","family":"Sirrs","sequence":"first","affiliation":[{"name":"Divisions of Endocrinology University of British Columbia Vancouver BC Canada"},{"name":"Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fady","family":"Hannah\u2010Shmouni","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children, University of Toronto Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Nantel","sequence":"additional","affiliation":[{"name":"Divisions of Hematology University of British Columbia Vancouver BC Canada"},{"name":"Leukemia and Bone Marrow Transplant Program, British Columbia Cancer Agency Vancouver BC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Neuberger","sequence":"additional","affiliation":[{"name":"Liver Unit Queen Elizabeth Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric M.","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Divisions of Gastroenterology University of British Columbia Vancouver BC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2012.04.015"},{"key":"e_1_2_9_3_1","doi-asserted-by":"crossref","unstructured":"Al\u2010ShamsiA BakerA DhawanA HertecantJ(2016)Acute metabolic crises in maple syrup urine disease after liver transplantation from a related heterozygous living donor.JIMD Rep.10.10007\/8904_2016_532","DOI":"10.1007\/8904_2016_532"},{"key":"e_1_2_9_4_1","first-page":"1139","article-title":"Comparative outcome of reduced intensity and myeloablative conditioning regimen in HLA identical sibling allogeneic haematopoietic stem cell transplantation for patients older than 50 years of age with acute myeloblastic leukaemia: a retrospective survey from the acute Leukemia working party (ALWP) of the European group for blood and marrow transplantation (EBMT)","volume":"106","author":"Aoudjhane M","year":"2005","journal-title":"Blood"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0012.2010.01327.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006283222607"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2009.11.003"},{"key":"e_1_2_9_8_1","first-page":"85","article-title":"Allogeneic bone marrow transplantation for Niemann\u2013pick disease (type IA)","volume":"10","author":"Bayever E","year":"1992","journal-title":"Bone Marrow Transplant"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2016.103"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1584602"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1171242"},{"key":"e_1_2_9_12_1","unstructured":"Center for International Blood and Marrow Transplant Research (CIBMTR)(2017)Transplant Activity Report covering 2010\u20132014.www.cibmtr.org. 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