{"id":"https://openalex.org/W2106739237","doi":"https://doi.org/10.1111/ped.12306","title":"Tangier disease in a T urkish family","display_name":"Tangier disease in a T urkish family","publication_year":2014,"publication_date":"2014-10-01","ids":{"openalex":"https://openalex.org/W2106739237","doi":"https://doi.org/10.1111/ped.12306","mag":"2106739237","pmid":"https://pubmed.ncbi.nlm.nih.gov/25335997"},"language":"en","primary_location":{"id":"doi:10.1111/ped.12306","doi":"https://doi.org/10.1111/ped.12306","is_oa":false,"landing_page_url":"https://doi.org/10.1111/ped.12306","pdf_url":null,"source":{"id":"https://openalex.org/S113298455","display_name":"Pediatrics International","issn_l":"1328-8067","issn":["1328-8067","1442-200X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics International","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/A5063180750","display_name":"Neriman \u015eahiner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45642913","display_name":"K\u0131r\u0131kkale University","ror":"https://ror.org/01zhwwf82","country_code":"TR","type":"education","lineage":["https://openalex.org/I45642913"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Neriman Sahiner","raw_affiliation_strings":["Department of Dermatology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","Department of Dermatology; Kirikkale University Faculty of Medicine; Kirikkale Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]},{"raw_affiliation_string":"Department of Dermatology; Kirikkale University Faculty of Medicine; Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108493581","display_name":"Mukadder Uzar Ko\u00e7ak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45642913","display_name":"K\u0131r\u0131kkale University","ror":"https://ror.org/01zhwwf82","country_code":"TR","type":"education","lineage":["https://openalex.org/I45642913"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mukadder Kocak","raw_affiliation_strings":["Department of Dermatology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","Department of Dermatology; Kirikkale University Faculty of Medicine; Kirikkale Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]},{"raw_affiliation_string":"Department of Dermatology; Kirikkale University Faculty of Medicine; Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002282695","display_name":"Fulya Demir\u00e7eken","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45642913","display_name":"K\u0131r\u0131kkale University","ror":"https://ror.org/01zhwwf82","country_code":"TR","type":"education","lineage":["https://openalex.org/I45642913"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Fulya Demirceken","raw_affiliation_strings":["Department of Pediatric Gastroenterology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Gastroenterology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084813734","display_name":"\u00dc\u00e7ler K\u0131sa","orcid":"https://orcid.org/0000-0002-8131-6810","observed_orcids":["https://orcid.org/0000-0002-8131-6810"]},"institutions":[{"id":"https://openalex.org/I45642913","display_name":"K\u0131r\u0131kkale University","ror":"https://ror.org/01zhwwf82","country_code":"TR","type":"education","lineage":["https://openalex.org/I45642913"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ucler Kisa","raw_affiliation_strings":["Department of Biochemistry K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","Department of Biochemistry, Kirikkale University Faculty of Medicine, Kirikkale, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]},{"raw_affiliation_string":"Department of Biochemistry, Kirikkale University Faculty of Medicine, Kirikkale, Turkey","institution_ids":["https://openalex.org/I45642913"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074694199","display_name":"\u015eebnem Ayva","orcid":"https://orcid.org/0000-0002-2280-8778","observed_orcids":["https://orcid.org/0000-0002-2280-8778"]},"institutions":[{"id":"https://openalex.org/I45642913","display_name":"K\u0131r\u0131kkale University","ror":"https://ror.org/01zhwwf82","country_code":"TR","type":"education","lineage":["https://openalex.org/I45642913"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Sebnem Ayva","raw_affiliation_strings":["Department of Pathology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046481236","display_name":"Mustafa Kazkayas\u0131","orcid":"https://orcid.org/0000-0001-5009-0700","observed_orcids":["https://orcid.org/0000-0001-5009-0700"]},"institutions":[{"id":"https://openalex.org/I45642913","display_name":"K\u0131r\u0131kkale University","ror":"https://ror.org/01zhwwf82","country_code":"TR","type":"education","lineage":["https://openalex.org/I45642913"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mustafa Kazkayasi","raw_affiliation_strings":["Ear Nose and Throat K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ear Nose and Throat K\u0131r\u0131kkale University Faculty of Medicine  Kirikkale Turkey","institution_ids":["https://openalex.org/I45642913"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5063180750"],"corresponding_institution_ids":["https://openalex.org/I45642913"],"apc_list":{"value":2700,"currency":"USD","value_usd":2700},"apc_paid":null,"fwci":0.4412,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.69812784,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"56","issue":"5","first_page":"777","last_page":"779"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.7329000234603882,"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":0.7329000234603882,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.08370000123977661,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.07559999823570251,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/tangier-disease","display_name":"Tangier disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/upper-gastrointestinal-tract-involvement","display_name":"upper gastrointestinal tract involvement","score":0.8489999771118164},{"id":"https://openalex.org/keywords/gastric-mucosa","display_name":"gastric mucosa","score":0.6119999885559082},{"id":"https://openalex.org/keywords/duodenal-mucosa","display_name":"duodenal mucosa","score":0.7549999952316284},{"id":"https://openalex.org/keywords/foamy-histiocytes","display_name":"foamy histiocytes","score":0.8009999990463257},{"id":"https://openalex.org/keywords/hepatosplenomegaly","display_name":"hepatosplenomegaly","score":0.8709999918937683},{"id":"https://openalex.org/keywords/dyslipidemia","display_name":"dyslipidemia","score":0.6660000085830688},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.5260000228881836},{"id":"https://openalex.org/keywords/familial-case","display_name":"familial case","score":0.45100000500679016}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7612552046775818},{"id":"https://openalex.org/C2777310793","wikidata":"https://www.wikidata.org/wiki/Q1725675","display_name":"Lamina propria","level":3,"score":0.6577593684196472},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.609803318977356},{"id":"https://openalex.org/C2780512811","wikidata":"https://www.wikidata.org/wiki/Q11829360","display_name":"Gastrointestinal tract","level":2,"score":0.5758672952651978},{"id":"https://openalex.org/C2777687718","wikidata":"https://www.wikidata.org/wiki/Q410539","display_name":"Globotriaosylceramide","level":4,"score":0.511625349521637},{"id":"https://openalex.org/C2777870961","wikidata":"https://www.wikidata.org/wiki/Q1292082","display_name":"Sore throat","level":2,"score":0.5033954977989197},{"id":"https://openalex.org/C4733338","wikidata":"https://www.wikidata.org/wiki/Q2792936","display_name":"Lipid metabolism","level":2,"score":0.44568905234336853},{"id":"https://openalex.org/C2779440204","wikidata":"https://www.wikidata.org/wiki/Q1260186","display_name":"Hepatosplenomegaly","level":3,"score":0.42360377311706543},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3439672589302063},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2492794394493103},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.22746652364730835},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.1546890139579773},{"id":"https://openalex.org/C529295009","wikidata":"https://www.wikidata.org/wiki/Q41301","display_name":"Epithelium","level":2,"score":0.11751237511634827},{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.10388073325157166}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"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":"D013631","descriptor_name":"Tangier Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D013631","descriptor_name":"Tangier Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014421","descriptor_name":"Turkey","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/ped.12306","doi":"https://doi.org/10.1111/ped.12306","is_oa":false,"landing_page_url":"https://doi.org/10.1111/ped.12306","pdf_url":null,"source":{"id":"https://openalex.org/S113298455","display_name":"Pediatrics International","issn_l":"1328-8067","issn":["1328-8067","1442-200X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics International","raw_type":"journal-article"},{"id":"pmid:25335997","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25335997","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":"Pediatrics international : official journal of the Japan Pediatric Society","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1524519685","https://openalex.org/W1591670239","https://openalex.org/W1925291262","https://openalex.org/W2004847989","https://openalex.org/W2051227378","https://openalex.org/W2052764851","https://openalex.org/W2056452930","https://openalex.org/W2103702458","https://openalex.org/W2334277704","https://openalex.org/W2339482293"],"related_works":["https://openalex.org/W2004847989","https://openalex.org/W1498432424","https://openalex.org/W79761468","https://openalex.org/W2945455714","https://openalex.org/W2326150288","https://openalex.org/W7166707550","https://openalex.org/W1990543822","https://openalex.org/W2171745871","https://openalex.org/W2409398383","https://openalex.org/W2055121541"],"abstract_inverted_index":{"In":[0],"this":[1],"report":[2],"we":[3],"describe":[4],"the":[5,51,60,75,79,84,88,125,128,132,135],"upper":[6,52],"gastrointestinal":[7,53,129],"tractus":[8],"involvement":[9],"in":[10,74],"a":[11,70,110],"rare":[12,111],"genetic":[13],"disease":[14,47],"of":[15,50,78,87,114,120,127],"lipid":[16,103,115],"metabolism.":[17],"A":[18],"12-year-old":[19],"boy":[20],"presented":[21],"with":[22,45,69,98],"sore":[23],"throat":[24],"and":[25,32,82,105],"fever.":[26],"On":[27],"physical":[28],"examination,":[29],"orange-yellow":[30,106],"tonsils":[31],"adenoid":[33],"tissue":[34],"were":[35],"noted.":[36],"Mild":[37],"hepatosplenomegaly":[38],"was":[39,43,95],"present.":[40],"Lipid":[41],"profile":[42,104],"compatible":[44],"Tangier":[46],"(TD).":[48],"Endoscopy":[49],"tract":[54,130],"showed":[55],"white-yellowish":[56],"fatty":[57],"deposits":[58],"on":[59,101],"gastric":[61,80],"mucosa.":[62],"Microscopically,":[63],"biopsy":[64],"specimens":[65],"contained":[66],"numerous":[67],"histiocytes":[68],"foamy":[71],"cytoplasm":[72],"packed":[73],"lamina":[76],"propria":[77],"mucosa":[81],"at":[83],"crypt":[85],"basement":[86],"duodenum.":[89],"His":[90],"sister,":[91],"8":[92],"years":[93],"old,":[94],"also":[96],"diagnosed":[97],"TD":[99,108],"based":[100],"abnormal":[102],"tonsils.":[107],"is":[109],"familial":[112],"disorder":[113],"metabolism,":[116],"characterized":[117],"by":[118],"deposition":[119],"cholesteryl":[121],"esters,":[122],"probably":[123],"involving":[124],"entirety":[126],"from":[131],"mouth":[133],"to":[134],"anus.":[136]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}