{"id":"https://openalex.org/W2000389899","doi":"https://doi.org/10.1159/000116978","title":"Multiple Sclerosis-Like Syndrome in a Woman Heterozygous for Adrenoleukodystrophy","display_name":"Multiple Sclerosis-Like Syndrome in a Woman Heterozygous for Adrenoleukodystrophy","publication_year":2008,"publication_date":"2008-02-12","ids":{"openalex":"https://openalex.org/W2000389899","doi":"https://doi.org/10.1159/000116978","mag":"2000389899","pmid":"https://pubmed.ncbi.nlm.nih.gov/8243517"},"language":"en","primary_location":{"id":"doi:10.1159/000116978","doi":"https://doi.org/10.1159/000116978","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000116978","pdf_url":null,"source":{"id":"https://openalex.org/S162735375","display_name":"European Neurology","issn_l":"0014-3022","issn":["0014-3022","1421-9913"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5097402833","display_name":"S. St\u00f6ckier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"S. St\u00f6ckier","raw_affiliation_strings":["Department of Pediatrics, University of Graz, Austria","Departments of Pediatrics, Neurology and Radiology, University of Graz, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Graz, Austria","institution_ids":["https://openalex.org/I15766117"]},{"raw_affiliation_string":"Departments of Pediatrics, Neurology and Radiology, University of Graz, and","institution_ids":["https://openalex.org/I15766117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110122233","display_name":"Michael M. Millner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"M. Millner","raw_affiliation_strings":["Departments of Pediatrics, Neurology and Radiology, University of Graz, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Neurology and Radiology, University of Graz, and","institution_ids":["https://openalex.org/I15766117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057758521","display_name":"Brunhilde Molzer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129774422","display_name":"University of Vienna","ror":"https://ror.org/03prydq77","country_code":"AT","type":"education","lineage":["https://openalex.org/I129774422"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"B. Molzer","raw_affiliation_strings":["Neurological Institute, University of Vienna, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurological Institute, University of Vienna, Austria","institution_ids":["https://openalex.org/I129774422"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029564703","display_name":"Franz Ebner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"F. Ebner","raw_affiliation_strings":["Departments of Pediatrics, Neurology and Radiology, University of Graz, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Neurology and Radiology, University of Graz, and","institution_ids":["https://openalex.org/I15766117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061081757","display_name":"E. K\u00f6rner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"E. K\u00f6rner","raw_affiliation_strings":["Departments of Pediatrics, Neurology and Radiology, University of Graz, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Neurology and Radiology, University of Graz, and","institution_ids":["https://openalex.org/I15766117"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108237987","display_name":"H. W. Moser","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H.W. Moser","raw_affiliation_strings":["Kennedy Institute for Handicapped Children and Department of Neurology, Johns Hopkins University, Baltimore, Md., USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute for Handicapped Children and Department of Neurology, Johns Hopkins University, Baltimore, Md., USA","institution_ids":["https://openalex.org/I145311948"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.1823,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":{"value":0.79107671,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"33","issue":"5","first_page":"390","last_page":"392"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10137","display_name":"Multiple Sclerosis Research Studies","score":0.7651000022888184,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10137","display_name":"Multiple Sclerosis Research Studies","score":0.7651000022888184,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.179299995303154,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.015300000086426735,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/adrenoleukodystrophy","display_name":"adrenoleukodystrophy","score":0.9139999747276306},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.9269999861717224},{"id":"https://openalex.org/keywords/white-matter-lesions","display_name":"white matter lesions","score":0.8199999928474426},{"id":"https://openalex.org/keywords/blurred-vision","display_name":"blurred vision","score":0.6230000257492065},{"id":"https://openalex.org/keywords/women","display_name":"women","score":0.4740000069141388}],"concepts":[{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.9825069904327393},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.8182603120803833},{"id":"https://openalex.org/C2780640218","wikidata":"https://www.wikidata.org/wiki/Q8277","display_name":"Multiple sclerosis","level":2,"score":0.7893108129501343},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.6069214940071106},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.5743812322616577},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5679993033409119},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4602884352207184},{"id":"https://openalex.org/C137916694","wikidata":"https://www.wikidata.org/wiki/Q1549382","display_name":"Asymptomatic carrier","level":3,"score":0.42707863450050354},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.4145759344100952},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.400540292263031},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3329334259033203},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.31485623121261597},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.23127475380897522},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.15117594599723816},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1252516508102417},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.12524768710136414},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11995553970336914},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.11771228909492493},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10672685503959656},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.09124994277954102},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005071","descriptor_name":"Evoked Potentials","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005227","descriptor_name":"Fatty Acids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009103","descriptor_name":"Multiple Sclerosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1159/000116978","doi":"https://doi.org/10.1159/000116978","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000116978","pdf_url":null,"source":{"id":"https://openalex.org/S162735375","display_name":"European Neurology","issn_l":"0014-3022","issn":["0014-3022","1421-9913"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Neurology","raw_type":"journal-article"},{"id":"pmid:8243517","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8243517","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2419396394","https://openalex.org/W2122693515","https://openalex.org/W2425867392","https://openalex.org/W2409623286","https://openalex.org/W2417305659","https://openalex.org/W2022047166","https://openalex.org/W2799783725","https://openalex.org/W2562696369","https://openalex.org/W2283216580","https://openalex.org/W2003228110"],"abstract_inverted_index":{"A":[0,30],"28-year-old":[1],"asymptomatic":[2],"woman":[3],"was":[4],"diagnosed":[5,26],"to":[6],"be":[7,65],"heterozygous":[8,61],"for":[9,62],"adrenoleukodystrophy":[10],"(ALD)":[11],"by":[12],"elevated":[13],"very":[14],"long-chain":[15],"fatty":[16],"acids":[17],"in":[18,27,59],"serum":[19],"and":[20,41],"fibroblasts":[21],"after":[22],"ADL":[23],"had":[24,34],"been":[25],"her":[28],"son.":[29],"year":[31],"later":[32],"she":[33],"transient":[35],"unilateral":[36],"blurred":[37],"vision.":[38],"Evoked":[39],"potentials":[40],"brain":[42],"magnetic":[43],"resonance":[44],"imaging":[45],"showed":[46],"further":[47],"separate":[48],"cerebral":[49],"white":[50],"matter":[51],"lesions":[52],"suggesting":[53],"multiple":[54],"sclerosis":[55],"(MS).":[56],"MS-like":[57],"syndromes":[58],"women":[60],"ALD":[63],"may":[64],"more":[66],"frequent":[67],"than":[68],"previously":[69],"recognized.":[70]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
