{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:15:23Z","timestamp":1765545323776},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,8,4]],"date-time":"2004-08-04T00:00:00Z","timestamp":1091577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Peroxisomal biogenesis defects include a number of severe neurodevelopmental disorders, among which infantile Refsum disease (IRD) occupies the mildest end of the spectrum. Although high docosahexaenoic acid (DHA) and low phytanic acid diets can correct some of the biochemical defects, they have not consistently altered the progressive course of the disease. We carried out orthotopic liver transplantation (OLT) in a mildly symptomatic 6\u2010month\u2010old infant who was a sibling of a severely neurologically impaired older sister. After transplantation the clinical course of this young child appeared much improved by comparison to her older sister. She walked alone at 4 years, had acceptable social interaction and had a noticeable recovery of audition. After transplantation her biochemical parameters were significantly improved: phytanic acid and very long\u2010chain fatty acid (VLCFA) serum concentrations decreased. Abnormal bile acids disappeared from plasma. Although the OLT did not result in a cure of the disorder, the clinical and biochemical results suggest that OLT should be considered in mildly symptomatic patients.<\/jats:p>","DOI":"10.1007\/s10545-005-0593-9","type":"journal-article","created":{"date-parts":[[2005,5,17]],"date-time":"2005-05-17T12:50:32Z","timestamp":1116334232000},"page":"593-600","source":"Crossref","is-referenced-by-count":33,"title":["Orthotopic liver transplantation from a living\u2010related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type"],"prefix":"10.1002","volume":"28","author":[{"given":"L. Van","family":"Maldergem","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Loverval Belgium"},{"name":"Metabolic Unit, Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  all\u00e9e des Templiers 41 Loverval B\u20106280 Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. B.","family":"Moser","sequence":"additional","affiliation":[{"name":"Peroxisomal Disorders Laboratory Kennedy Krieger Institute and Department of Neurology Johns Hopkins Medical Unversity  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.\u2010F.","family":"Vincent","sequence":"additional","affiliation":[{"name":"Metabolic Disorders  Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Roland","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Loverval Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Reding","sequence":"additional","affiliation":[{"name":"Medical and Surgical Pediatric Gastroenterology  Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010B.","family":"Otte","sequence":"additional","affiliation":[{"name":"Medical and Surgical Pediatric Gastroenterology  Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Sokal","sequence":"additional","affiliation":[{"name":"Medical and Surgical Pediatric Gastroenterology  Belgium"},{"name":"Department of Pediatrics, Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,8,4]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0593-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0593-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:22:17Z","timestamp":1694737337000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0593-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8,4]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1007\/s10545-005-0593-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0593-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,8,4]]}}}