{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T20:51:54Z","timestamp":1776199914026,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,16]],"date-time":"2018-02-16T00:00:00Z","timestamp":1518739200000},"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":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in <jats:styled-content style=\"fixed-case\">PEX<\/jats:styled-content> genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content> was shown to correct levels of circulating toxic metabolites, partly responsible for chronic neurological impairment. Of three patients having undergone <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content> for mild <jats:styled-content style=\"fixed-case\">ZSD<\/jats:styled-content>, one died after <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content>, while the other two displayed significant neurodevelopmental improvement on both the long\u2010term (17\u00a0years post\u2010<jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content>) and short\u2010term (9\u00a0months post\u2010<jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content>) follow\u2010up. We documented a sustained improvement of biochemical functions, with a complete normalization of plasma phytanic, pristanic, and pipecolic acid levels. This was associated with stabilization of hearing and visual functions, and improved neurodevelopmental status, which has enabled the older patient to lead a relatively autonomous lifestyle on the long term. The psychomotor acquisitions have been markedly improved as compared to their affected siblings, who did not undergo <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content> and exhibited a poor neurological outcome with severe disabilities. We speculate that <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content> performed before the onset of severe sensorineural defects in mild <jats:styled-content style=\"fixed-case\">ZSD<\/jats:styled-content> enables partial metabolic remission and improved long\u2010term clinical outcomes.<\/jats:p>","DOI":"10.1111\/petr.13112","type":"journal-article","created":{"date-parts":[[2018,2,17]],"date-time":"2018-02-17T04:02:47Z","timestamp":1518840167000},"source":"Crossref","is-referenced-by-count":16,"title":["Living\u2010donor liver transplantation for mild Zellweger spectrum disorder: Up to 17\u00a0years follow\u2010up"],"prefix":"10.1111","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7605-9031","authenticated-orcid":false,"given":"Tanguy","family":"Demaret","sequence":"first","affiliation":[{"name":"Service de Gastro\u2010Ent\u00e9rologie et H\u00e9patologie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5573-7817","authenticated-orcid":false,"given":"Sharat","family":"Varma","sequence":"additional","affiliation":[{"name":"Service de Gastro\u2010Ent\u00e9rologie et H\u00e9patologie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Stephenne","sequence":"additional","affiliation":[{"name":"Service de Gastro\u2010Ent\u00e9rologie et H\u00e9patologie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Smets","sequence":"additional","affiliation":[{"name":"Service de Gastro\u2010Ent\u00e9rologie et H\u00e9patologie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Scheers","sequence":"additional","affiliation":[{"name":"Service de Gastro\u2010Ent\u00e9rologie et H\u00e9patologie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7818-1452","authenticated-orcid":false,"given":"Ronald","family":"Wanders","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases Department of Clinical Chemistry Academic Medical Center  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8880-5214","authenticated-orcid":false,"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Centre Hospitalier R\u00e9gional Universitaire de Besan\u00e7on Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond","family":"Reding","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Chirurgie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5597-4708","authenticated-orcid":false,"given":"Etienne","family":"Sokal","sequence":"additional","affiliation":[{"name":"Service de Gastro\u2010Ent\u00e9rologie et H\u00e9patologie P\u00e9diatrique Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.04.006"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2015.11.015"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9880-2"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.12.009"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lfs.2010.06.015"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0593-9"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.TP.0000077420.81365.53"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014328"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.5966\/sctm.2015-0260"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(67)80070-2"},{"key":"e_1_2_11_12_1","unstructured":"The milestone checklist. 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