{"id":"https://openalex.org/W70154864","doi":"https://doi.org/10.1007/bf03656968","title":"Adrenoleukodystrophy \u2013 a new mutation identified","display_name":"Adrenoleukodystrophy \u2013 a new mutation identified","publication_year":2007,"publication_date":"2007-10-01","ids":{"openalex":"https://openalex.org/W70154864","doi":"https://doi.org/10.1007/bf03656968","mag":"70154864","pmid":"https://pubmed.ncbi.nlm.nih.gov/18306728"},"language":"en","primary_location":{"id":"doi:10.1007/bf03656968","doi":"https://doi.org/10.1007/bf03656968","is_oa":true,"landing_page_url":"https://doi.org/10.1007/bf03656968","pdf_url":"https://link.springer.com/content/pdf/10.1007/BF03656968.pdf","source":{"id":"https://openalex.org/S2756093218","display_name":"Bratislavske\u0301 leka\u0301rske listy/Bratislava medical journal","issn_l":"0006-9248","issn":["0006-9248","1336-0345"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bratislava Medical Journal","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/BF03656968.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031584151","display_name":"Ivana Vachalov\u00e1","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210095125","display_name":"University Hospital Bratislava","ror":"https://ror.org/00pspca89","country_code":"SK","type":"healthcare","lineage":["https://openalex.org/I4210095125"]},{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"I Vachalova","raw_affiliation_strings":["Dept of Neuro- logy , Faculty of Medicine , Comenius University and University Hospi- tal , Mickiewiczova 13 , SK-813 69 Bratislava 1 , Slovakia","1st Department of Neurology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia. vachalova@gmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept of Neuro- logy , Faculty of Medicine , Comenius University and University Hospi- tal , Mickiewiczova 13 , SK-813 69 Bratislava 1 , Slovakia","institution_ids":["https://openalex.org/I4210095125","https://openalex.org/I74788687"]},{"raw_affiliation_string":"1st Department of Neurology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia. vachalova@gmail.com","institution_ids":["https://openalex.org/I4210095125","https://openalex.org/I74788687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019691882","display_name":"J\u00e1n Chandoga","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210095125","display_name":"University Hospital Bratislava","ror":"https://ror.org/00pspca89","country_code":"SK","type":"healthcare","lineage":["https://openalex.org/I4210095125"]},{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"J Chandoga","raw_affiliation_strings":["1st Department of Neurology , Faculty of Medicine , Comenius Univer- sity and University Hospital , Bratislava , and","Centre of Medical Gene- tics , University Hospital , Bratislava , Slovakia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1st Department of Neurology , Faculty of Medicine , Comenius Univer- sity and University Hospital , Bratislava , and","institution_ids":["https://openalex.org/I4210095125","https://openalex.org/I74788687"]},{"raw_affiliation_string":"Centre of Medical Gene- tics , University Hospital , Bratislava , Slovakia","institution_ids":["https://openalex.org/I4210095125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005962385","display_name":"R\u00f3bert Petrovi\u010d","orcid":"https://orcid.org/0000-0002-6789-8447","observed_orcids":["https://orcid.org/0000-0002-6789-8447"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Petrovic","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"D Copikova-Cudrakova","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D Copikova-Cudrakova","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M Sykora","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Sykora","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5023522286","display_name":"Pavel Traubner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Traubner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3590,"currency":"USD","value_usd":3590},"apc_paid":{"value":3590,"currency":"USD","value_usd":3590},"fwci":0.0,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.01096163,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"108","issue":"10-11","first_page":"462","last_page":"466"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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":0.0003000000142492354,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-adrenoleukodystrophy","display_name":"X-linked adrenoleukodystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/abcd1-gene","display_name":"ABCD1 gene","score":0.9760000109672546},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7599999904632568},{"id":"https://openalex.org/keywords/initiation-codon-mutation","display_name":"initiation codon mutation","score":0.9629999995231628},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.8939999938011169},{"id":"https://openalex.org/keywords/peroxisomal-disorders","display_name":"peroxisomal disorders","score":0.9739999771118164},{"id":"https://openalex.org/keywords/peroxisomal-membrane-proteins","display_name":"peroxisomal membrane proteins","score":0.8920000195503235},{"id":"https://openalex.org/keywords/spastic-paraparesis","display_name":"spastic paraparesis","score":0.8500000238418579},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7910000085830688},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.9340000152587891},{"id":"https://openalex.org/keywords/adult-onset-diagnosis","display_name":"adult-onset diagnosis","score":0.6000000238418579}],"concepts":[{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.9815850257873535},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.7553033232688904},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6495811939239502},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5107157230377197},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.50203537940979},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.48883455991744995},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4763912558555603},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4530401825904846},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.44875699281692505},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.42815518379211426},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39982402324676514},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3870365023612976},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.38423973321914673},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.37902143597602844},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.25585445761680603},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2407189905643463}],"mesh":[{"descriptor_ui":"D000074063","descriptor_name":"ATP Binding Cassette Transporter, Subfamily D, Member 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1007/bf03656968","doi":"https://doi.org/10.1007/bf03656968","is_oa":true,"landing_page_url":"https://doi.org/10.1007/bf03656968","pdf_url":"https://link.springer.com/content/pdf/10.1007/BF03656968.pdf","source":{"id":"https://openalex.org/S2756093218","display_name":"Bratislavske\u0301 leka\u0301rske listy/Bratislava medical journal","issn_l":"0006-9248","issn":["0006-9248","1336-0345"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bratislava Medical Journal","raw_type":"journal-article"},{"id":"pmid:18306728","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18306728","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":"Bratislavske lekarske listy","raw_type":"Case Reports"},{"id":"mag:70154864","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18306728","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"doi:10.1007/bf03656968","doi":"https://doi.org/10.1007/bf03656968","is_oa":true,"landing_page_url":"https://doi.org/10.1007/bf03656968","pdf_url":"https://link.springer.com/content/pdf/10.1007/BF03656968.pdf","source":{"id":"https://openalex.org/S2756093218","display_name":"Bratislavske\u0301 leka\u0301rske listy/Bratislava medical journal","issn_l":"0006-9248","issn":["0006-9248","1336-0345"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bratislava Medical Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W70154864.pdf","grobid_xml":"https://content.openalex.org/works/W70154864.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1481406810","https://openalex.org/W1606277396","https://openalex.org/W1798056753","https://openalex.org/W1966799030","https://openalex.org/W1970632240","https://openalex.org/W1970958008","https://openalex.org/W1977221209","https://openalex.org/W2004215030","https://openalex.org/W2010056900","https://openalex.org/W2011304265","https://openalex.org/W2024607954","https://openalex.org/W2031456971","https://openalex.org/W2054026377","https://openalex.org/W2072699836","https://openalex.org/W2085894877","https://openalex.org/W2120685190","https://openalex.org/W2124230153","https://openalex.org/W2138312139","https://openalex.org/W2147636525","https://openalex.org/W2162097287","https://openalex.org/W2168526937","https://openalex.org/W2211467290"],"related_works":["https://openalex.org/W3160255157","https://openalex.org/W2179837613","https://openalex.org/W2134676206","https://openalex.org/W1998236945","https://openalex.org/W4210927031","https://openalex.org/W3114189143","https://openalex.org/W1872027886","https://openalex.org/W2191712831","https://openalex.org/W2048461548","https://openalex.org/W1983903019"],"abstract_inverted_index":{"INTRODUCTION:":[0],"X-linked":[1,46,139],"adrenoleukodystrophy":[2,108,140],"from":[3],"the":[4,19,43,53,60,63,73,79,89,107,116,120,145,164,188,194,200,217,222],"group":[5],"of":[6,14,45,52,62,98,106,122,132,151,158,172,190,196,225],"peroxisomal":[7,24],"disorders":[8],"presents":[9],"with":[10,135,144],"an":[11,39,173],"extensive":[12],"spectrum":[13],"phenotypes.":[15],"The":[16,170],"mutation":[17,114],"affects":[18],"ABCD1":[20,123],"gene":[21,124],"encoding":[22],"a":[23,129,133,142,181],"membrane":[25],"protein.":[26],"So":[27],"far,":[28],"its":[29],"detailed":[30],"function":[31],"has":[32],"not":[33,178],"been":[34],"clarified.":[35],"However,":[36],"it":[37,208],"plays":[38],"essential":[40],"role":[41],"in":[42,59,72,85,88,115,119,199,205,216],"ethiopathogenesis":[44],"adrenoleukodystrophy.":[47],"Its":[48],"defect":[49],"causes":[50],"accumulation":[51],"very":[54,99],"long":[55,100],"chain":[56,101],"fatty":[57,102],"acids":[58],"tissues":[61],"central":[64],"and":[65,71,82,162,168,193],"peripheral":[66],"nervous":[67],"system,":[68],"adrenal":[69],"glands":[70],"body":[74],"fluids.":[75],"PURPOSE:":[76],"To":[77],"review":[78],"clinical":[80],"presentations":[81],"diagnostic":[83,165],"issues":[84],"X-adrenoleukodystrophy":[86],"diagnosed":[87],"one":[90],"affected":[91,201],"family.":[92],"METHODS:":[93],"A":[94,111],"case":[95],"report.":[96],"Measurement":[97],"acids.":[103],"Molecular":[104],"analysis":[105],"gene.":[109],"RESULTS:":[110],"new":[112,152],"\"unique\"":[113],"initiation":[117],"codon":[118],"first'exon":[121],"was":[125],"identified.":[126],"We":[127],"present":[128],"phenotype":[130],"description":[131],"patient":[134],"this":[136,159,213],"mutation.":[137],"CONCLUSIONS:":[138],"is":[141,176,209],"disease":[143,161],"incidence":[146],"rate":[147],"approximately":[148],"1:16,800.":[149],"Detection":[150],"mutations":[153],"contributes":[154],"to":[155,211],"better":[156],"understanding":[157],"rare":[160],"makes":[163],"more":[166],"available":[167],"precise.":[169],"importance":[171],"adequate":[174],"diagnosis":[175,214,224],"justified":[177],"only":[179],"by":[180,187],"different":[182],"therapeutic":[183],"approach,":[184],"but":[185],"also":[186,215],"need":[189,195],"prenatal":[191],"diagnostics":[192],"genetic":[197],"counselling":[198],"families.":[202],"As":[203],"demonstrated":[204],"our":[206],"case,":[207],"necessary":[210],"consider":[212],"adult":[218],"age,":[219],"e.g.":[220],"within":[221],"differential":[223],"spastic":[226],"paraparesis":[227],"(Tab.":[228],"1,":[229],"Fig.":[230],"4,":[231],"Ref":[232],"23).":[233],"Full":[234],"Text":[235],"(Free,":[236],"PDF)":[237],"www.bmrj.sk.":[238]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}