{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:54:54Z","timestamp":1787313294691,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,8]],"date-time":"2023-07-08T00:00:00Z","timestamp":1688774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Organic acidurias (OAs), urea\u2010cycle disorders (UCDs), and maple syrup urine disease (MSUD) belong to the category of intoxication\u2010type inborn errors of metabolism (IT\u2010IEM). Liver transplantation (LTx) is increasingly utilized in IT\u2010IEM. However, its impact has been mainly focused on clinical outcome measures and rarely on health\u2010related quality of life (HRQoL). Aim of the study was to investigate the impact of LTx on HrQoL in IT\u2010IEMs. This single center prospective study involved 32 patients (15 OA, 11 UCD, 6 MSUD; median age at LTx 3.0\u2009years, range 0.8\u201326.0). HRQoL was assessed pre\/post transplantation by PedsQL\u2010General Module 4.0 and by MetabQoL 1.0, a specifically designed tool for IT\u2010IEM. PedsQL highlighted significant post\u2010LTx improvements in total and physical functioning in both patients' and parents' scores. According to age at transplantation (\u22643 vs. &gt;3\u2009years), younger patients showed higher post\u2010LTx scores on Physical (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.03), Social (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001), and Total (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=0.007) functioning. MetabQoL confirmed significant post\u2010LTx changes in Total and Physical functioning in both patients and parents scores (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009\u2264\u20090.009). Differently from PedsQL, MetabQoL Mental (patients\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.013, parents\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.03) and Social scores (patients\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.02, parents\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.012) were significantly higher post\u2010LTx. Significant improvements (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.001\u20130.04) were also detected both in self\u2010 and proxy\u2010reports for almost all MetabQoL subscales. This study shows the importance of assessing the impact of transplantation on HrQoL, a meaningful outcome reflecting patients' wellbeing. LTx is associated with significant improvements of HrQol in both self\u2010 and parent\u2010reports. The comparison between PedsQL\u2010GM and MetabQoL highlighted that MetabQoL demonstrated higher sensitivity in the assessment of disease\u2010specific domains than the generic PedsQL tool.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12648","type":"journal-article","created":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T06:12:10Z","timestamp":1688364730000},"page":"906-915","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["The impact of liver transplantation on health\u2010related quality of life in (acute) intoxication\u2010type inborn errors of metabolism"],"prefix":"10.1002","volume":"46","author":[{"given":"Benedetta","family":"Greco","sequence":"first","affiliation":[{"name":"Division of Metabolic Diseases Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"},{"name":"Unit of Clinical Psychology Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Caviglia","sequence":"additional","affiliation":[{"name":"Unit of Clinical Psychology Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa Grimaldi","family":"Capitello","sequence":"additional","affiliation":[{"name":"Unit of Clinical Psychology Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Liccardo","sequence":"additional","affiliation":[{"name":"Division of Hepatology, Gastroenterology and Nutrition Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"De Nictolis","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Pietrobattista","sequence":"additional","affiliation":[{"name":"Division of Hepatology, Gastroenterology and Nutrition Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Huemer","sequence":"additional","affiliation":[{"name":"Division of Metabolism Children's Research Center and University Children's Hospital Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Piga","sequence":"additional","affiliation":[{"name":"Unit of Clinical Epidemiology, Medical Direction Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Olivieri","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gionata","family":"Spagnoletti","sequence":"additional","affiliation":[{"name":"Unit of Hepato\u2010Biliary\u2010Pancreatic Surgery Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0796-6847","authenticated-orcid":false,"given":"Marco","family":"Spada","sequence":"additional","affiliation":[{"name":"Unit of Hepato\u2010Biliary\u2010Pancreatic Surgery Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0007-3379","authenticated-orcid":false,"given":"Carlo","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12370"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12100"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.05.006"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9618-y"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40273-016-0389-9"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-200108000-00006"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12301"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0159-8"},{"key":"e_1_2_11_10_1","first-page":"25","article-title":"Inborn errors of metabolism: from preconception to adulthood","volume":"99","author":"Kruszka P","year":"2019","journal-title":"Am Fam Physician"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.25433"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12741"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12318"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12219"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-015-9921-x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12174"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.08.048"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11010111"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.25634"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2009.02604.x"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_11"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1367\/1539-4409(2003)003<0329:TPAAPP>2.0.CO;2"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.23765"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.08.022"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2011.01623.x"},{"key":"e_1_2_11_26_1","first-page":"1","article-title":"Living with intoxication\u2010type inborn errors of metabolism: a qualitative analysis of interviews with Paediatric patients and their parents","volume":"31","author":"Zeltner NA","year":"2017","journal-title":"JIMD Rep"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2049-9"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-008-9350-5"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.111839"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(02)00537-1"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2020.01.059"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12089"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7525-11-158"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2021.24.3.288"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1045-1"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrtlng.2012.12.002"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.88.10.931"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7525-11-101"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-011-9904-9"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01748-x"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/cld.1059"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T21:26:18Z","timestamp":1699478778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,8]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/jimd.12648"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12648","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,8]]},"assertion":[{"value":"2023-03-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}