{"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":1793333495674,"version":"4.5.0"},"reference-count":47,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T00:00:00Z","timestamp":1761264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.ymgme.2025.109265","type":"journal-article","created":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T01:37:21Z","timestamp":1761356241000},"page":"109265","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark"],"prefix":"10.1016","volume":"146","author":[{"given":"Cecilie S.","family":"Videb\u00e6k","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne G.","family":"Lindquist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vibeke A.","family":"Larsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin W.","family":"Kj\u00e6r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Melgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f8rgen E.","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine W.","family":"Gr\u00f8nborg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2025.109265_bb0005","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1750-1172-7-51","article-title":"X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management","volume":"7","author":"Engelen","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109265_bb0010","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.pediatrneurol.2012.12.007","article-title":"Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance","volume":"48","author":"Horn","year":"2013","journal-title":"Pediatr. Neurol."},{"issue":"9","key":"10.1016\/j.ymgme.2025.109265_bb0015","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1111\/dmcn.14884","article-title":"Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in northern Finland","volume":"63","author":"Knuutinen","year":"2021","journal-title":"Dev. Med. Child Neurol."},{"issue":"11","key":"10.1016\/j.ymgme.2025.109265_bb0020","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1007\/s100380200090","article-title":"Epidemiology of X-linked adrenoleukodystrophy in Japan","volume":"47","author":"Takemoto","year":"2002","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2025.109265_bb0025","author":"Leukodystrophy incidence in Germany - PubMed"},{"issue":"12","key":"10.1016\/j.ymgme.2025.109265_bb0030","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1212\/WNL.44.12.2343","article-title":"Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds","volume":"44","author":"van Geel","year":"1994","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ymgme.2025.109265_bb0035","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.braindev.2009.02.002","article-title":"X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil","volume":"32","author":"Jardim","year":"2010","journal-title":"Brain Dev."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109265_bb0040","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00713859","article-title":"X-linked adrenoleukodystrophy: first report of the Italian study group","volume":"19","author":"Di Biase","year":"1998","journal-title":"Ital. J. Neurol. Sci."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109265_bb0045","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107734","article-title":"Newborn screening for adrenoleukodystrophy: international experiences and challenges","volume":"140","author":"Videb\u00e6k","year":"2023","journal-title":"Mol. Genet. Metab."},{"issue":"10","key":"10.1016\/j.ymgme.2025.109265_bb0050","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1007\/s11910-014-0486-0","article-title":"X-linked adrenoleukodystrophy: pathogenesis and treatment","volume":"14","author":"Engelen","year":"2014","journal-title":"Curr. Neurol. Neurosci. Rep."},{"issue":"9","key":"10.1016\/j.ymgme.2025.109265_bb0055","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1080\/14712598.2022.2124857","article-title":"Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy","volume":"22","author":"Gupta","year":"2022","journal-title":"Expert Opin. Biol. Ther."},{"key":"10.1016\/j.ymgme.2025.109265_bb0060","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000201374","article-title":"International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: a consensus-based approach","author":"Engelen","year":"2022","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0065","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-019-1008-6","article-title":"Disease progression in women with X-linked adrenoleukodystrophy is slow","volume":"14","author":"Huffnagel","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0070","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s43856-024-00605-9","article-title":"Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy","volume":"4","author":"Jaspers","year":"2024","journal-title":"Commun. Med."},{"key":"10.1016\/j.ymgme.2025.109265_bb0075","doi-asserted-by":"crossref","DOI":"10.1001\/jamapediatrics.2024.6774","article-title":"Prognostication and biomarker potential of C26:0 Lysophosphatidylcholine in adrenoleukodystrophy","author":"Billington","year":"2025","journal-title":"JAMA Pediatr."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109265_bb0080","doi-asserted-by":"crossref","first-page":"913","DOI":"10.3390\/cells11050913","article-title":"Evaluation of neurofilament light chain as a biomarker of neurodegeneration in X-linked childhood cerebral adrenoleukodystrophy","volume":"11","author":"Wang","year":"2022","journal-title":"Cells"},{"issue":"12","key":"10.1016\/j.ymgme.2025.109265_bb0085","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.3390\/cells10123427","article-title":"Molecular biomarkers for adrenoleukodystrophy: an unmet need","volume":"10","author":"Honey","year":"2021","journal-title":"Cells"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0090","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1038\/s41467-021-22114-2","article-title":"Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy","volume":"12","author":"Weinhofer","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymgme.2025.109265_bb0095","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2023.104781","article-title":"Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy","volume":"96","author":"Weinhofer","year":"2023","journal-title":"eBioMedicine"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0100","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/s43856-025-00915-6","article-title":"Neurofilament light chain as a biomarker to indicate early activation of cerebral disease in boys with adrenoleukodystrophy","volume":"5","author":"Lund","year":"2025","journal-title":"Commun. Med."},{"issue":"7624","key":"10.1016\/j.ymgme.2025.109265_bb0105","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1136\/bmj.39335.541782.AD","article-title":"Strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies","volume":"335","author":"von Elm","year":"2007","journal-title":"BMJ"},{"key":"10.1016\/j.ymgme.2025.109265_bb0110","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbi.2019.103208","article-title":"The REDCap consortium: building an international community of software platform partners","volume":"95","author":"Harris","year":"2019","journal-title":"J. Biomed. Inform."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109265_bb0115","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)\u2014a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J. Biomed. Inform."},{"key":"10.1016\/j.ymgme.2025.109265_bb0120","unstructured":"Sundhedsstyrelsens Specialeplan. Published Online 2024. 2024."},{"key":"10.1016\/j.ymgme.2025.109265_bb0125","unstructured":"Sundhedsstyrelsens Specialeplan. Published Online 2025. 2025."},{"issue":"9","key":"10.1016\/j.ymgme.2025.109265_bb0130","first-page":"1761","article-title":"Adrenoleukodystrophy: a scoring method for brain MR observations","volume":"15","author":"Loes","year":"1994","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"Pt 8","key":"10.1016\/j.ymgme.2025.109265_bb0135","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1093\/brain\/120.8.1485","article-title":"Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy","volume":"120","author":"Moser","year":"1997","journal-title":"Brain J. Neurol."},{"key":"10.1016\/j.ymgme.2025.109265_bb0140","series-title":"Laboratory Guide to the Methods in Biochemical Genetics","first-page":"221","article-title":"Very-long-chain fatty acids and phytanic acid","author":"Wanders","year":"2025"},{"issue":"Pt 3","key":"10.1016\/j.ymgme.2025.109265_bb0190","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 J. Neurol."},{"issue":"15","key":"10.1016\/j.ymgme.2025.109265_bb0165","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000007294","article-title":"MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy","volume":"92","author":"Liberato","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2025.109265_bb0145","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107678","article-title":"VUS: Variant of uncertain significance or very unclear situation?","author":"Kemp","year":"2023","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109265_bb0150","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."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109265_bb0155","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/ajmg.1320410307","article-title":"Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families","volume":"41","author":"Costakos","year":"1991","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109265_bb0160","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1089\/gte.2007.0001","article-title":"Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening","volume":"11","author":"Schaller","year":"2007","journal-title":"Genet. Test."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0200","first-page":"66","article-title":"The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD)","volume":"38","author":"Li","year":"2006","journal-title":"Beijing Da Xue Xue Bao"},{"issue":"5","key":"10.1016\/j.ymgme.2025.109265_bb0205","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O","article-title":"X-linked adrenoleukodystrophy: the Australasian experience","volume":"76","author":"Kirk","year":"1998","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109265_bb0210","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000110321","article-title":"Adrenoleukodystrophy in France: an epidemiological study","volume":"12","author":"Sereni","year":"1993","journal-title":"Neuroepidemiology"},{"issue":"5","key":"10.1016\/j.ymgme.2025.109265_bb0215","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O","article-title":"X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds","volume":"76","author":"Ruiz","year":"1998","journal-title":"Am. J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109265_bb0220","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1111\/j.1399-0004.2005.00423.x","article-title":"Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females","volume":"67","author":"Coll","year":"2005","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109265_bb0225","article-title":"Mutations, clinical findings and survival estimates in south American patients with X-linked adrenoleukodystrophy","volume":"7","author":"dos S","year":"2012","journal-title":"PloS One"},{"issue":"4","key":"10.1016\/j.ymgme.2025.109265_bb0230","article-title":"Adrenoleukodystrophy: phenotypic variability and implications for therapy","volume":"15","author":"Hw","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2025.109265_bb0170","author":"Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation - ClinicalKey"},{"issue":"3","key":"10.1016\/j.ymgme.2025.109265_bb0175","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1182\/blood-2003-10-3402","article-title":"Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999","volume":"104","author":"Peters","year":"2004","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0180","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1186\/s13023-023-02843-x","article-title":"Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - a population-based study","volume":"18","author":"Sevin","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109265_bb0185","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s13023-024-03129-6","article-title":"Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)","volume":"19","author":"Varma","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2025.109265_bb0195","author":"NYT: Middellevetiden stiger fortsat"},{"issue":"6414","key":"10.1016\/j.ymgme.2025.109265_bb0235","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1038\/361726a0","article-title":"Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters","volume":"361","author":"Mosser","year":"1993","journal-title":"Nature"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225002574?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225002574?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T03:34:06Z","timestamp":1765596846000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719225002574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":47,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["S1096719225002574"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109265","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109265","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"109265"}}