{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T06:35:36Z","timestamp":1786948536951,"version":"build-2736575974"},"reference-count":17,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.gene.2013.07.073","type":"journal-article","created":{"date-parts":[[2013,8,18]],"date-time":"2013-08-18T04:30:17Z","timestamp":1376800217000},"page":"155-157","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier"],"prefix":"10.1016","volume":"530","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"L\u00e4sser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"St\u00f6phasius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.07.073_bb0065","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ana.101","article-title":"Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening","volume":"49","author":"Bezman","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.gene.2013.07.073_bb0005","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1006\/mgme.1998.2779","article-title":"Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy","volume":"66","author":"Boehm","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.07.073_bb0020","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.gene.2012.10.076","article-title":"Epilepsy in adult X-linked adrenoleukodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene","volume":"513","author":"Brownstone","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.gene.2013.07.073_bb0075","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1399-0004.1996.tb02386.x","article-title":"Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation","volume":"50","author":"Inoue","year":"1996","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.07.073_bb0025","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.ymgme.2011.11.001","article-title":"Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated","volume":"105","author":"Jangouk","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.07.073_bb0045","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1007\/s001150170037","article-title":"Adrenoleukodystrophy mimicking multiple sclerosis","volume":"72","author":"Krenn","year":"2001","journal-title":"Nervenarzt"},{"key":"10.1016\/j.gene.2013.07.073_bb0010","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/j.arcped.2005.03.050","article-title":"X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences","volume":"12","author":"Lesca","year":"2005","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.gene.2013.07.073_bb0060","first-page":"872","article-title":"Symptomatic adrenoleukodystrophy heterozygote with fluctuated neurological symptoms \u2014 a case report","volume":"31","author":"Matsumuro","year":"1991","journal-title":"Rinsho Shinkeigaku"},{"key":"10.1016\/j.gene.2013.07.073_bb0070","series-title":"Metabolic and Molecular Bases of Inherited Disease","article-title":"X-linked adrenoleukodystrophy","author":"Moser","year":"2004"},{"key":"10.1016\/j.gene.2013.07.073_bb0055","first-page":"151","article-title":"Pathologic findings in adrenoleukodystrophy heterozygotes","volume":"111","author":"Powers","year":"1987","journal-title":"Arch. Pathol. Lab. Med."},{"key":"10.1016\/j.gene.2013.07.073_bb0030","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1093\/brain\/120.7.1139","article-title":"Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement","volume":"120","author":"Restuccia","year":"1997","journal-title":"Brain"},{"key":"10.1016\/j.gene.2013.07.073_bb0035","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1750-1172-7-10","article-title":"Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms","volume":"7","author":"Salsano","year":"2012","journal-title":"Orphanet. J. Rare. Dis."},{"key":"10.1016\/j.gene.2013.07.073_bb0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00314189","article-title":"Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study","volume":"235","author":"Schlote","year":"1987","journal-title":"J. Neurol."},{"key":"10.1016\/j.gene.2013.07.073_bb0040","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1136\/jnnp.50.9.1165","article-title":"Adrenoleukodystrophy in a mother and son","volume":"50","author":"Simpson","year":"1987","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.gene.2013.07.073_bb0085","series-title":"GeneReviews\u2122","article-title":"X-Linked Adrenoleukodystrophy","author":"Steinberg","year":"1999"},{"key":"10.1016\/j.gene.2013.07.073_bb0080","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1023\/A:1013992224811","article-title":"Decreasing serum VLCFA levels in ageing X-ALD female carriers","volume":"24","author":"Stradomska","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.gene.2013.07.073_bb0015","first-page":"1764","article-title":"Carrier state of x-linked adrenoleukodystrophy","volume":"144","author":"van Geel","year":"2000","journal-title":"Ned. Tijdschr. Geneeskd."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913009815?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913009815?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T17:52:36Z","timestamp":1539453156000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913009815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0378111913009815"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.07.073","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.07.073","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}