{"id":"https://openalex.org/W2157680049","doi":"https://doi.org/10.1136/jcp.49.12.985","title":"Severe xanthomatosis associated with familial apolipoprotein E deficiency.","display_name":"Severe xanthomatosis associated with familial apolipoprotein E deficiency.","publication_year":1996,"publication_date":"1996-12-01","ids":{"openalex":"https://openalex.org/W2157680049","doi":"https://doi.org/10.1136/jcp.49.12.985","mag":"2157680049","pmid":"https://pubmed.ncbi.nlm.nih.gov/9038735","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/499646"},"language":"en","primary_location":{"id":"doi:10.1136/jcp.49.12.985","doi":"https://doi.org/10.1136/jcp.49.12.985","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jcp.49.12.985","pdf_url":"https://jcp.bmj.com/content/jclinpath/49/12/985.full.pdf","source":{"id":"https://openalex.org/S37362813","display_name":"Journal of Clinical Pathology","issn_l":"0021-9746","issn":["0021-9746","1472-4146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Pathology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jcp.bmj.com/content/jclinpath/49/12/985.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087893023","display_name":"Giso Feussner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"G Feussner","raw_affiliation_strings":["Department of Internal Medicine I, Endocrinology and Metabolism, University of Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine I, Endocrinology and Metabolism, University of Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5087893023"],"corresponding_institution_ids":["https://openalex.org/I223822909"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":10,"citation_normalized_percentile":{"value":0.26088878,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"49","issue":"12","first_page":"985","last_page":"989"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.9735999703407288,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T13430","display_name":"Lipid metabolism and disorders","score":0.9735999703407288,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.023000000044703484,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.002300000051036477,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"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"}}],"keywords":[{"id":"https://openalex.org/keywords/xanthomatosis","display_name":"xanthomatosis","score":0.8809999823570251},{"id":"https://openalex.org/keywords/exon-4-deletion","display_name":"exon 4 deletion","score":0.8899999856948853},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.8690000176429749},{"id":"https://openalex.org/keywords/remnant-lipoproteins","display_name":"remnant lipoproteins","score":0.7990000247955322},{"id":"https://openalex.org/keywords/atherogenic-lipoproteins","display_name":"atherogenic lipoproteins","score":0.7680000066757202},{"id":"https://openalex.org/keywords/atherosclerosis","display_name":"atherosclerosis","score":0.7960000038146973},{"id":"https://openalex.org/keywords/lipoprotein-metabolism","display_name":"lipoprotein metabolism","score":0.7919999957084656}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5511993765830994},{"id":"https://openalex.org/C62746215","wikidata":"https://www.wikidata.org/wiki/Q14890615","display_name":"Apolipoprotein B","level":3,"score":0.5143900513648987},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.39355915784835815},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3379817605018616},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.25409990549087524},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21113824844360352},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.15315848588943481}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006952","descriptor_name":"Hyperlipoproteinemia Type III","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006952","descriptor_name":"Hyperlipoproteinemia Type III","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D006952","descriptor_name":"Hyperlipoproteinemia Type III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008074","descriptor_name":"Lipoproteins","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014973","descriptor_name":"Xanthomatosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014973","descriptor_name":"Xanthomatosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1136/jcp.49.12.985","doi":"https://doi.org/10.1136/jcp.49.12.985","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jcp.49.12.985","pdf_url":"https://jcp.bmj.com/content/jclinpath/49/12/985.full.pdf","source":{"id":"https://openalex.org/S37362813","display_name":"Journal of Clinical Pathology","issn_l":"0021-9746","issn":["0021-9746","1472-4146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Pathology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:499646","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/499646","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"J Clin Pathol","raw_type":"Text"},{"id":"pmid:9038735","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9038735","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":"Journal of clinical pathology","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1136/jcp.49.12.985","doi":"https://doi.org/10.1136/jcp.49.12.985","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jcp.49.12.985","pdf_url":"https://jcp.bmj.com/content/jclinpath/49/12/985.full.pdf","source":{"id":"https://openalex.org/S37362813","display_name":"Journal of Clinical Pathology","issn_l":"0021-9746","issn":["0021-9746","1472-4146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Pathology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2157680049.pdf","grobid_xml":"https://content.openalex.org/works/W2157680049.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W107204087","https://openalex.org/W1483242733","https://openalex.org/W1571922283","https://openalex.org/W1595513249","https://openalex.org/W1965548883","https://openalex.org/W1980407853","https://openalex.org/W1982789996","https://openalex.org/W2000991693","https://openalex.org/W2008692985","https://openalex.org/W2017319919","https://openalex.org/W2055340637","https://openalex.org/W2066644955","https://openalex.org/W2070984401","https://openalex.org/W2074179345","https://openalex.org/W2080831516","https://openalex.org/W2088880906","https://openalex.org/W2092891802","https://openalex.org/W2092939690","https://openalex.org/W2098945650","https://openalex.org/W2118094114","https://openalex.org/W2135503869","https://openalex.org/W2162458714","https://openalex.org/W2163481780","https://openalex.org/W2169149496","https://openalex.org/W2188783728","https://openalex.org/W2336112818","https://openalex.org/W2340994834","https://openalex.org/W2485655344","https://openalex.org/W2622208693"],"related_works":["https://openalex.org/W1571922283","https://openalex.org/W2070984401","https://openalex.org/W2169149496","https://openalex.org/W7208158955","https://openalex.org/W2340994834","https://openalex.org/W2008692985","https://openalex.org/W2108492699","https://openalex.org/W2055340637","https://openalex.org/W1948697076","https://openalex.org/W2113367669"],"abstract_inverted_index":{"AIM:":[0],"To":[1],"present":[2],"the":[3,44,47,65,79,134,139],"clinical,":[4],"dermatological,":[5],"and":[6,20,43,114,147],"histological":[7],"features":[8],"of":[9,46,64,78,106,117,141,149],"a":[10,88,92,128],"patient":[11],"with":[12],"generalised":[13],"xanthomatosis,":[14],"familial":[15],"apolipoprotein":[16],"(apo)":[17],"E":[18,125,143],"deficiency,":[19],"unusual":[21,38],"type":[22],"III":[23],"hyperlipoproteinaemia":[24],"(HLP).":[25],"METHODS:":[26],"The":[27,37,99],"underlying":[28],"molecular":[29,34],"defect":[30],"was":[31,82],"disclosed":[32],"using":[33,52],"biological":[35],"techniques.":[36],"xanthomas":[39],"were":[40],"histologically":[41],"analysed":[42],"morphology":[45],"abnormal":[48],"lipoprotein":[49,108,145],"particles":[50],"examined":[51],"electron":[53],"microscopy.":[54],"RESULTS:":[55],"A":[56],"10":[57],"base":[58],"pair":[59],"deletion":[60],"in":[61,96,112,120,151],"exon":[62],"4":[63],"proband's":[66],"apo":[67,124,142],"epsilon":[68],"gene":[69],"(base":[70],"pairs":[71],"4037-4046":[72],"coding":[73],"for":[74,87,103],"amino":[75],"acids":[76],"209-212":[77],"mature":[80],"protein)":[81],"identified.":[83],"This":[84],"is":[85,101,127],"predictive":[86],"reading":[89],"frameshift":[90],"encoding":[91],"premature":[93],"stop":[94],"(TGA)":[95],"codon":[97],"229.":[98],"mutation":[100],"responsible":[102],"delayed":[104],"catabolism":[105],"atherogenic":[107],"remnants,":[109],"lipid":[110],"storage":[111],"monocyte/macrophages,":[113],"phenotypic":[115],"expression":[116],"xanthomatosis":[118],"early":[119],"life.":[121],"CONCLUSIONS:":[122],"Familial":[123],"deficiency":[126],"rare":[129],"genetic":[130],"disease":[131],"which":[132],"offers":[133],"unique":[135],"opportunity":[136],"to":[137],"study":[138],"impact":[140],"on":[144],"metabolism":[146],"development":[148],"atherosclerosis":[150],"humans.":[152]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
