{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T01:24:23Z","timestamp":1779413063215,"version":"3.53.1"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T00:00:00Z","timestamp":1777680000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["163829\/2020\u20109"],"award-info":[{"award-number":["163829\/2020\u20109"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      X\u2010linked adrenoleukodystrophy (X\u2010ALD) is the most common peroxisomal disorder, caused by\n                      <jats:italic>ABCD1<\/jats:italic>\n                      mutations that impair very long\u2010chain fatty acid (VLCFA) degradation, leading to progressive neurological damage and adrenal insufficiency. C26:0\u2010Lysophosphatidylcholine (C26:0\u2010Lyso\u2010PC) has emerged as a robust biomarker for X\u2010ALD and a candidate for newborn screening programs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The objective of this study is to standardize and validate C26:0\u2010Lyso\u2010PC quantification by liquid chromatography\u2013tandem mass spectrometry (LC\u2010MS\/MS) and evaluate its diagnostic accuracy in high\u2010risk populations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and Methods<\/jats:title>\n                    <jats:p>Reference values were established from 25 healthy controls and compared with five confirmed X\u2010ALD cases (one cerebral childhood form, three heterozygous women and one asymptomatic male). Additionally, 64 DBS samples from individuals at high risk for inborn errors of metabolism (IEM) were tested. Plasma VLCFA were quantified by gas chromatography\u2013mass spectrometry (GC\/MS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Control C26:0\u2010Lyso\u2010PC values ranged from 0.13 to 0.25\u2009\u03bcg\/mL (mean\u2009=\u20090.19\u2009\u03bcg\/mL). All X\u2010ALD patients exhibited elevated concentrations (0.377\u20130.787\u2009\u03bcg\/mL). Among samples from patients at high risk for disease, four were abnormal\u2014two consistent with X\u2010ALD and two with other peroxisomal disorders. Strong correlations were observed between C26:0\u2010Lyso\u2010PC and plasma C26:0 (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.952,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and the C26:0\/C22:0 ratio (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.801,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05). The method demonstrated high reproducibility (intra\u2010assay CV\u2009=\u20098.6% and interassay CV\u2009=\u200912.8%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>C26:0\u2010Lyso\u2010PC measurement in DBS by LC\u2010MS\/MS is a rapid, sensitive and reproducible alternative to plasma VLCFA analysis, enabling reliable discrimination of X\u2010ALD and other peroxisomal disorders. These findings support its integration into targeted and population\u2010based screening to allow presymptomatic diagnosis, early intervention and genetic counselling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jdn.70136","type":"journal-article","created":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T07:55:18Z","timestamp":1777708518000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of c26:0\u2010Lyso\u2010Phosphatidylcholine Levels in X\u2010Linked Adrenoleukodystrophy: Diagnosis and Biochemical Monitoring"],"prefix":"10.1002","volume":"86","author":[{"given":"Gilian","family":"Guerreiro","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Deon","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziela","family":"Becker","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5223-1041","authenticated-orcid":false,"given":"Lu\u00edsa","family":"Tedesco","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Faculdade de Farm\u00e1cia Universidade Federal do Rio Grande do Sul  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2135-0654","authenticated-orcid":false,"given":"Carmen Regla","family":"Vargas","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias Farmac\u00eauticas Universidade Federal do Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias Biol\u00f3gicas: Bioqu\u00edmica Universidade Federal do Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12571"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.101"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.102.6.e69"},{"key":"e_1_2_11_5_1","first-page":"357","article-title":"Gene Therapy Strategies for X\u2010Linked Adrenoleukodystrophy","volume":"3","author":"Cartier N.","year":"2001","journal-title":"Current Opinion in Molecular Therapeutics"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750\u20103639.2010.00394.x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.022178"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817\u2010200007000\u201000011"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10571\u2010015\u20100234\u20102"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201051"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00122"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2012.03.026"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.05.001"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.10.012"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2025.104476"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00690"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10376"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns11030053"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1353\/dem.2007.0038"},{"key":"e_1_2_11_20_1","first-page":"3257","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Moser H. 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