{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T04:11:35Z","timestamp":1793333495795,"version":"4.5.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,3]],"date-time":"2024-02-03T00:00:00Z","timestamp":1706918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003030","name":"AGAUR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012513","name":"CIBER","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012513","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jlr.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Lipid Research"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.jlr.2024.100516","type":"journal-article","created":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T01:33:48Z","timestamp":1707010428000},"page":"100516","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal \u03b2-oxidation disorders"],"prefix":"10.1016","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5120-4001","authenticated-orcid":false,"given":"Blai","family":"Morales-Romero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7622-417X","authenticated-orcid":false,"given":"Jos\u00e9 Manuel","family":"Gonz\u00e1lez de Aledo-Castillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Fern\u00e1ndez Sierra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Mart\u00ednez Carreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carles","family":"Zaragoza Bonet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Fern\u00e1ndez Bonifacio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7960-9980","authenticated-orcid":false,"given":"Maria Ant\u00f2nia","family":"Caro Mir\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6069-7370","authenticated-orcid":false,"given":"Ana","family":"Argudo-Ram\u00edrez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Mar\u00eda","family":"L\u00f3pez Galera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2132-4138","authenticated-orcid":false,"given":"Judit","family":"Garc\u00eda-Villoria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jlr.2024.100516_bib1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1055\/s-0036-1582140","article-title":"Clinical and biochemical pitfalls in the diagnosis of peroxisomal disorders","volume":"47","author":"Klouwer","year":"2016","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jlr.2024.100516_bib2","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/nrendo.2016.90","article-title":"Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history","volume":"12","author":"Kemp","year":"2016","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.jlr.2024.100516_bib3","series-title":"GeneReviews\u00ae [Internet]","article-title":"X-linked adrenoleukodystrophy","author":"Raymond","year":"1999"},{"issue":"Pt 3","key":"10.1016\/j.jlr.2024.100516_bib4","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/brain\/awt361","article-title":"X-linked adrenoleukodystrophy in women: a cross-sectional cohort study","volume":"137","author":"Engelen","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.jlr.2024.100516_bib5","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ymgme.2015.12.009","article-title":"Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines","volume":"117","author":"Braverman","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2024.100516_bib6","first-page":"1552","article-title":"Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia","volume":"263","author":"Renaud","year":"2016","journal-title":"J.\u00a0Neurol."},{"key":"10.1016\/j.jlr.2024.100516_bib7","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.ymgme.2021.09.007","article-title":"Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype","volume":"134","author":"Enns","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2024.100516_bib8","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/S0022-2275(20)38861-1","article-title":"Direct transesterification of all classes of lipids in a one-step reaction","volume":"27","author":"Lepage","year":"1986","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.jlr.2024.100516_bib9","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U","article-title":"Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls","volume":"45","author":"Moser","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jlr.2024.100516_bib10","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.mcp.2018.02.001","article-title":"Peroxisomal disorders: improved laboratory diagnosis, new defects and the complicated route to treatment","volume":"40","author":"Wanders","year":"2018","journal-title":"Mol. Cell Probes"},{"key":"10.1016\/j.jlr.2024.100516_bib11","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1038\/s41436-019-0713-9","article-title":"Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"De Biase","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.jlr.2024.100516_bib12","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1182\/blood-2011-01-329235","article-title":"Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report","volume":"118","author":"Miller","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jlr.2024.100516_bib13","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1056\/NEJMoa1700554","article-title":"Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy","volume":"377","author":"Eichler","year":"2017","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.jlr.2024.100516_bib14","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ymgme.2006.05.001","article-title":"Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings","volume":"89","author":"Hubbard","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2024.100516_bib15","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ymgme.2009.03.010","article-title":"Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS\/MS) method","volume":"97","author":"Hubbard","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2024.100516_bib16","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3390\/ijns2040015","article-title":"Newborn screening for X-linked adrenoleukodystrophy","volume":"2","author":"Moser","year":"2016","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib17","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1002\/ajmg.a.61171","article-title":"A\u00a0report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy","volume":"179","author":"Wiens","year":"2019","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.jlr.2024.100516_bib18","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2019.20356","article-title":"Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina","volume":"3","author":"Lee","year":"2020","journal-title":"JAMA Netw. Open"},{"key":"10.1016\/j.jlr.2024.100516_bib19","doi-asserted-by":"crossref","first-page":"22","DOI":"10.3390\/ijns7020022","article-title":"Adrenoleukodystrophy newborn screening in California since 2016: programmatic outcomes and follow-up","volume":"7","author":"Matteson","year":"2021","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib20","doi-asserted-by":"crossref","first-page":"58","DOI":"10.3390\/ijns7030058","article-title":"Advanced diagnostic system and introduction of newborn screening of adrenoleukodystrophy and peroxisomal disorders in Japan","volume":"7","author":"Shimozawa","year":"2021","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib21","doi-asserted-by":"crossref","first-page":"29","DOI":"10.3390\/ijns8020029","article-title":"Newborn screening for X-linked adrenoleukodystrophy in Nebraska: initial experiences and challenges","volume":"8","author":"Baker","year":"2022","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib22","doi-asserted-by":"crossref","first-page":"6","DOI":"10.3390\/ijns8010006","article-title":"Newborn screening for X-linked adrenoleukodystrophy: the initial Illinois experience","volume":"8","author":"Burton","year":"2022","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib23","article-title":"High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan","volume":"32","author":"Chen","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.jlr.2024.100516_bib24","doi-asserted-by":"crossref","first-page":"24","DOI":"10.3390\/ijns8020024","article-title":"Newborn screening for X-linked adrenoleukodystrophy: review of data and outcomes in Pennsylvania","volume":"8","author":"Priestley","year":"2022","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib25","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/jimd.12571","article-title":"Sex-specific newborn screening for X-linked adrenoleukodystrophy","volume":"46","author":"Albersen","year":"2023","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.jlr.2024.100516_bib26","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2017.10.012","article-title":"Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy","volume":"122","author":"Huffnagel","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2024.100516_bib27","first-page":"115","article-title":"Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy","volume":"12","author":"Wu","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.jlr.2024.100516_bib28","doi-asserted-by":"crossref","first-page":"690","DOI":"10.3389\/fcell.2020.00690","article-title":"Comparison of the diagnostic performance of C26:0-lysophosphatidylcholine and very long-chain fatty acids analysis for peroxisomal disorders","volume":"8","author":"Jaspers","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.jlr.2024.100516_bib29","article-title":"Adrenoleukodystrophy newborn screening in The Netherlands (SCAN study): the X-factor","volume":"9","author":"Barendsen","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.jlr.2024.100516_bib30","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.cca.2020.01.016","article-title":"Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China","volume":"503","author":"Tian","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jlr.2024.100516_bib31","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3390\/ijns6040081","article-title":"Newborn screening for X-linked adrenoleukodystrophy in Georgia: experiences from a pilot study screening of 51,081 newborns","volume":"6","author":"Hall","year":"2020","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.jlr.2024.100516_bib32","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.1072256","article-title":"Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring","volume":"13","author":"Bonaventura","year":"2023","journal-title":"Front. Neurol."},{"key":"10.1016\/j.jlr.2024.100516_bib33","unstructured":"Regulation (EU) 2017\/746 of the European Parliament and of the Council of 5 April 2017 on in\u00a0vitro diagnostic medical devices and repealing Directive 98\/79\/EC and Commission Decision 2010\/227\/EU."},{"key":"10.1016\/j.jlr.2024.100516_bib34","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.clinbiochem.2015.09.011","article-title":"Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS\/MS analysis of dried blood spot extracts for newborn screening","volume":"49","author":"Haynes","year":"2016","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.jlr.2024.100516_bib35","article-title":"Age and gender-specific reference intervals for a panel of lysophosphatidylcholines estimated by tandem mass spectrometry in dried blood spots","volume":"33","author":"Natarajan","year":"2022","journal-title":"Pract. Lab. Med."}],"container-title":["Journal of Lipid Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002222752400021X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002222752400021X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T18:34:15Z","timestamp":1758306855000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002222752400021X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["S002222752400021X"],"URL":"https:\/\/doi.org\/10.1016\/j.jlr.2024.100516","relation":{},"ISSN":["0022-2275"],"issn-type":[{"value":"0022-2275","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal \u03b2-oxidation disorders","name":"articletitle","label":"Article Title"},{"value":"Journal of Lipid Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jlr.2024.100516","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}],"article-number":"100516"}}