{"id":"https://openalex.org/W1993086885","doi":"https://doi.org/10.1016/0303-8467(93)90004-z","title":"Delay in diagnosis of X-linked adrenoleukodystrophy","display_name":"Delay in diagnosis of X-linked adrenoleukodystrophy","publication_year":1993,"publication_date":"1993-06-01","ids":{"openalex":"https://openalex.org/W1993086885","doi":"https://doi.org/10.1016/0303-8467(93)90004-z","mag":"1993086885","pmid":"https://pubmed.ncbi.nlm.nih.gov/8344008"},"language":"en","primary_location":{"id":"doi:10.1016/0303-8467(93)90004-z","doi":"https://doi.org/10.1016/0303-8467(93)90004-z","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0303-8467(93)90004-z","pdf_url":null,"source":{"id":"https://openalex.org/S165396890","display_name":"Clinical Neurology and Neurosurgery","issn_l":"0303-8467","issn":["0303-8467","1872-6968"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Neurology and Neurosurgery","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5109996529","display_name":"Bj\u00f6rn M. van Geel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"B.M. van Geel","raw_affiliation_strings":["Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands","Departments of Neurology and Paediatrics, Academic Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]},{"raw_affiliation_string":"Departments of Neurology and Paediatrics, Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034331485","display_name":"Johanna Assies","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J. Assies","raw_affiliation_strings":["Department of Psychiatry Academic Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108522472","display_name":"Elizabeth B. Haverkort","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"E.B. Haverkort","raw_affiliation_strings":["Department of Dietetics Academic Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dietetics Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025943767","display_name":"Peter G. Barth","orcid":"https://orcid.org/0000-0002-9025-5677","observed_orcids":["https://orcid.org/0000-0002-9025-5677"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"P.G. Barth","raw_affiliation_strings":["Departments of Neurology and Paediatrics, Academic Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology and Paediatrics, Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040743356","display_name":"Ronald J. A. Wanders","orcid":"https://orcid.org/0000-0001-7818-1452","observed_orcids":["https://orcid.org/0000-0001-7818-1452"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"R.J.A. Wanders","raw_affiliation_strings":["Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111455865","display_name":"Ruud B. H. Schutgens","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"R.B.H. Schutgens","raw_affiliation_strings":["Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062030401","display_name":"A. Keyser","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Keyser","raw_affiliation_strings":["Institute of Neurology, University Hospital, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Neurology, University Hospital, Nijmegen, The Netherlands","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023747032","display_name":"Casper P. Zwetsloot","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110084","display_name":"Waterlandziekenhuis","ror":"https://ror.org/02pfr9428","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210110084"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"C.P. Zwetsloot","raw_affiliation_strings":["Department of Neurology, Slreekziekenhuis Waterland, Purmerend, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Slreekziekenhuis Waterland, Purmerend, The Netherlands","institution_ids":["https://openalex.org/I4210110084"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5109996529"],"corresponding_institution_ids":["https://openalex.org/I2802928900"],"apc_list":{"value":3740,"currency":"USD","value_usd":3740},"apc_paid":null,"fwci":0.9262,"has_fulltext":false,"cited_by_count":26,"citation_normalized_percentile":{"value":0.6856634,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"95","issue":"2","first_page":"115","last_page":"120"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9589999914169312,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9589999914169312,"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":0.03759999945759773,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/x-linked-adrenoleukodystrophy","display_name":"X-linked adrenoleukodystrophy","score":1.0},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.9710000157356262},{"id":"https://openalex.org/keywords/adrenal-insufficiency","display_name":"adrenal insufficiency","score":0.8999999761581421},{"id":"https://openalex.org/keywords/multiple-sclerosis-misdiagnosis","display_name":"multiple sclerosis misdiagnosis","score":0.9350000023841858},{"id":"https://openalex.org/keywords/adrenomyeloneuropathy","display_name":"adrenomyeloneuropathy","score":0.996999979019165},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.9909999966621399},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6639999747276306},{"id":"https://openalex.org/keywords/family-screening","display_name":"family screening","score":0.8059999942779541},{"id":"https://openalex.org/keywords/dietary-therapy","display_name":"dietary therapy","score":0.7509999871253967},{"id":"https://openalex.org/keywords/bone-marrow-transplantation","display_name":"bone marrow transplantation","score":0.9990000128746033}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9341835975646973},{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.7328556776046753},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5787281394004822},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4827660620212555},{"id":"https://openalex.org/C2776135927","wikidata":"https://www.wikidata.org/wiki/Q5242559","display_name":"Referral","level":2,"score":0.46354931592941284},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4273696541786194},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.42516911029815674},{"id":"https://openalex.org/C2778551932","wikidata":"https://www.wikidata.org/wiki/Q285115","display_name":"Organomegaly","level":3,"score":0.4221719205379486},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.0752391517162323},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000224","descriptor_name":"Addison Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000303","descriptor_name":"Adrenal Cortex Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000303","descriptor_name":"Adrenal Cortex Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005227","descriptor_name":"Fatty Acids","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008830","descriptor_name":"Microbodies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009069","descriptor_name":"Movement Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009069","descriptor_name":"Movement Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012737","descriptor_name":"Sex Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1016/0303-8467(93)90004-z","doi":"https://doi.org/10.1016/0303-8467(93)90004-z","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0303-8467(93)90004-z","pdf_url":null,"source":{"id":"https://openalex.org/S165396890","display_name":"Clinical Neurology and Neurosurgery","issn_l":"0303-8467","issn":["0303-8467","1872-6968"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Neurology and Neurosurgery","raw_type":"journal-article"},{"id":"pmid:8344008","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8344008","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":"Clinical neurology and neurosurgery","raw_type":"Case Reports"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/0e724016-df7d-488a-b229-0409a1b6edd5","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/delay-in-diagnosis-of-xlinked-adrenoleukodystrophy(0e724016-df7d-488a-b229-0409a1b6edd5).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical neurology and neurosurgery, 95(2), 115 - 120. Elsevier","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/23435f4f-f0a1-4e90-807e-fde271491238","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/23435f4f-f0a1-4e90-807e-fde271491238","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"van Geel, B M, Assies, J, Haverkort, E B, Barth, P G, Wanders, R J, Schutgens, R B, Keyser, A & Zwetsloot, C P 1993, 'Delay in diagnosis of X-linked adrenoleukodystrophy', Clinical neurology and neurosurgery, vol. 95, no. 2, pp. 115-120. https://doi.org/10.1016/0303-8467(93)90004-Z","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W314960756","https://openalex.org/W1596131539","https://openalex.org/W1646802567","https://openalex.org/W1977221209","https://openalex.org/W1990906452","https://openalex.org/W1991432870","https://openalex.org/W2001955255","https://openalex.org/W2004164378","https://openalex.org/W2005960977","https://openalex.org/W2012938428","https://openalex.org/W2017234490","https://openalex.org/W2033561631","https://openalex.org/W2037167329","https://openalex.org/W2040999360","https://openalex.org/W2050783692","https://openalex.org/W2054584520","https://openalex.org/W2058594449","https://openalex.org/W2064716240","https://openalex.org/W2089560150","https://openalex.org/W2106485907","https://openalex.org/W2107786477","https://openalex.org/W2164071022","https://openalex.org/W2320665909","https://openalex.org/W2419396394","https://openalex.org/W3145894777"],"related_works":["https://openalex.org/W4407741898","https://openalex.org/W2050194209","https://openalex.org/W3030415085","https://openalex.org/W2015169848","https://openalex.org/W2222090074","https://openalex.org/W2416735183","https://openalex.org/W7204004550","https://openalex.org/W4414285117","https://openalex.org/W2594789582","https://openalex.org/W3206702440"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}