{"id":"https://openalex.org/W109230539","doi":null,"title":"Estudo molecular de doentes com dislipidemia familiar","display_name":"Estudo molecular de doentes com dislipidemia familiar","publication_year":2008,"publication_date":"2008-01-01","ids":{"openalex":"https://openalex.org/W109230539","mag":"109230539"},"language":"es","primary_location":{"id":"pmh:oai:repositorio.ulisboa.pt:10451/6185","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10451/6185","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"master thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10451/6185","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5024858088","display_name":"T\u00e2nia Afonso Rocha Sim\u00e3o Branco dos Santos","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"T\u00e2nia Afonso Rocha Sim\u00e3o Branco dos Santos","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5024858088"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":1.0,"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":1.0,"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":0.0,"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/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.0,"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/familial-hypertriglyceridemia","display_name":"familial hypertriglyceridemia","score":0.9039999842643738},{"id":"https://openalex.org/keywords/lipoprotein-lipase-gene","display_name":"lipoprotein lipase gene","score":0.7649999856948853},{"id":"https://openalex.org/keywords/usf1","display_name":"USF1","score":0.7400000095367432},{"id":"https://openalex.org/keywords/apolipoprotein-c-iii","display_name":"apolipoprotein C-III","score":0.9980000257492065},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.531000018119812},{"id":"https://openalex.org/keywords/hypertriglyceridemia","display_name":"hypertriglyceridemia","score":0.8309999704360962},{"id":"https://openalex.org/keywords/acute-pancreatitis","display_name":"acute pancreatitis","score":0.7250000238418579},{"id":"https://openalex.org/keywords/cardiovascular-risk","display_name":"cardiovascular risk","score":0.7350000143051147},{"id":"https://openalex.org/keywords/triglyceride-metabolism","display_name":"triglyceride metabolism","score":0.7639999985694885},{"id":"https://openalex.org/keywords/gene-rearrangement","display_name":"gene rearrangement","score":0.6299999952316284}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3065599203109741}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:repositorio.ulisboa.pt:10451/6185","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10451/6185","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"master thesis"},{"id":"mag:109230539","doi":null,"is_oa":false,"landing_page_url":"https://repositorio.ul.pt/bitstream/10451/6185/1/ulfc100086_tm_tania_santos.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:repositorio.ulisboa.pt:10451/6185","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10451/6185","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"master thesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":81,"referenced_works":["https://openalex.org/W21815137","https://openalex.org/W80412147","https://openalex.org/W110103096","https://openalex.org/W152190566","https://openalex.org/W1162328122","https://openalex.org/W1486180443","https://openalex.org/W1488596056","https://openalex.org/W1491271516","https://openalex.org/W1520339390","https://openalex.org/W1530559862","https://openalex.org/W1534027430","https://openalex.org/W1564265361","https://openalex.org/W1569224973","https://openalex.org/W1583078163","https://openalex.org/W1702775890","https://openalex.org/W1790369637","https://openalex.org/W1969816393","https://openalex.org/W1976260219","https://openalex.org/W1981628852","https://openalex.org/W1982040758","https://openalex.org/W1983049756","https://openalex.org/W1989364943","https://openalex.org/W1991354189","https://openalex.org/W1991509746","https://openalex.org/W1992391582","https://openalex.org/W1995915856","https://openalex.org/W2009316979","https://openalex.org/W2013564052","https://openalex.org/W2014040586","https://openalex.org/W2014670571","https://openalex.org/W2022525201","https://openalex.org/W2027453945","https://openalex.org/W2037516677","https://openalex.org/W2037908858","https://openalex.org/W2042140336","https://openalex.org/W2045931178","https://openalex.org/W2046516243","https://openalex.org/W2056748059","https://openalex.org/W2059589608","https://openalex.org/W2064323231","https://openalex.org/W2064539715","https://openalex.org/W2065848711","https://openalex.org/W2067803802","https://openalex.org/W2071874717","https://openalex.org/W2074627270","https://openalex.org/W2077406306","https://openalex.org/W2077512266","https://openalex.org/W2080575646","https://openalex.org/W2090485942","https://openalex.org/W2098585497","https://openalex.org/W2110481094","https://openalex.org/W2110944832","https://openalex.org/W2112843712","https://openalex.org/W2113481191","https://openalex.org/W2113727840","https://openalex.org/W2116720735","https://openalex.org/W2117219849","https://openalex.org/W2118610670","https://openalex.org/W2125425622","https://openalex.org/W2126568311","https://openalex.org/W2127203659","https://openalex.org/W2129413932","https://openalex.org/W2130663435","https://openalex.org/W2136549286","https://openalex.org/W2142818580","https://openalex.org/W2148766735","https://openalex.org/W2149182120","https://openalex.org/W2149460927","https://openalex.org/W2154268171","https://openalex.org/W2159090847","https://openalex.org/W2160623613","https://openalex.org/W2163236973","https://openalex.org/W2166210546","https://openalex.org/W2185669241","https://openalex.org/W2203481725","https://openalex.org/W2331191058","https://openalex.org/W2336028315","https://openalex.org/W2344016273","https://openalex.org/W2401206966","https://openalex.org/W2413801799","https://openalex.org/W2994184924"],"related_works":["https://openalex.org/W1530590678","https://openalex.org/W101021209","https://openalex.org/W1543985041","https://openalex.org/W2905266756","https://openalex.org/W6992838495","https://openalex.org/W2583801576","https://openalex.org/W4506001","https://openalex.org/W206758918","https://openalex.org/W2353673516","https://openalex.org/W2276463401"],"abstract_inverted_index":{"A":[0,273],"lipase":[1],"lipoproteica":[2],"(LPL)":[3],"desempenha":[4],"um":[5,66],"papel":[6],"fundamental":[7],"no":[8,213,239,246,253,261,303],"metabolismo":[9],"dos":[10,141,231,291],"trigliceridos,":[11],"sendo":[12],"respons\u00e1vel":[13],"pela":[14,118,279],"sua":[15],"hidr\u00f3lise":[16],"em":[17,28,33,120,229,233],"\u00e1cidos":[18],"gordos":[19],"e":[20,36,96,127,154,157,162,171,177,187,203,256,271,287],"glicerol.":[21],"Altera\u00e7\u00f5es":[22],"neste":[23],"gene":[24,98,139,214,240,247,254,262],"t\u00eam":[25,87],"sido":[26,88],"verificadas":[27],"doentes":[29,53,76,121,128],"com":[30,90,122,129,299],"Defici\u00eancia":[31],"Familiar":[32,38],"LPL":[34,215],"(FLLD)":[35],"Dislipidemia":[37],"Combinada":[39],"(FCHL),":[40],"conduzindo":[41],"a":[42,205,282,288,300],"uma":[43,295],"perda":[44],"total":[45],"ou":[46],"parcial":[47],"da":[48,50,179,285],"funcionalidade":[49],"enzima.":[51],"Os":[52,174],"afectados":[54],"por":[55,201,218],"estas":[56],"dislipidemias":[57],"apresentam":[58],"geralmente":[59],"hipertrigliceridemia,":[60],"que":[61,143],"v\u00e1rios":[62],"estudos":[63],"demonstram":[64],"ser":[65],"factor":[67],"de":[68,78,81,94,125,132,164,210,275,305],"risco":[69,304],"independente":[70],"para":[71,145],"doen\u00e7as":[72,306],"cardiovasculares.":[73],"Frequentemente":[74],"estes":[75],"sofrem":[77],"epis\u00f3dios":[79],"recorrentes":[80],"pancreatite":[82],"aguda.":[83],"Algumas":[84],"apolipoprote\u00ednas":[85,147,186],"tamb\u00e9m":[86],"relacionadas":[89],"os":[91,182,191],"n\u00edveis":[92],"s\u00e9ricos":[93],"trigliceridos":[95],"o":[97],"USF1":[99,195],"(Upstream":[100],"Transcription":[101],"Factor":[102],"1)":[103],"parece":[104],"estar":[105],"envolvido":[106],"na":[107],"FCHL.":[108],"O":[109,208],"objectivo":[110],"deste":[111],"estudo":[112,136,209],"\u00e9":[113],"identificar":[114],"altera\u00e7\u00f5es":[115,228,238,252,260,267,276],"gen\u00e9ticas":[116,277],"respons\u00e1veis":[117,278],"hipertrigliceridemia":[119,280],"suspeita":[123],"cl\u00ednica":[124],"FLLD":[126],"fen\u00f3tipo":[130],"sugestivo":[131],"FCHL,":[133],"recorrendo":[134],"ao":[135],"molecular":[137],"do":[138,158,194],"LPL,":[140,180,241],"genes":[142,232,269],"codificam":[144],"as":[146,188],"apo":[148,150,152,155],"A-IV,":[149],"A-V,":[151],"C-II":[153],"C-III":[156],"USF1.":[159,263],"Entre":[160],"Janeiro":[161],"Setembro":[163],"2008":[165],"foram":[166,199,265],"analisados":[167],"20":[168,221],"casos":[169,222],"\u00edndex":[170],"10":[172,175],"familiares.":[173],"ex\u00f5es":[176,183],"promotor":[178],"todos":[181],"codificantes":[184],"das":[185],"regi\u00f5es":[189],"contendo":[190],"dois":[192],"polimorfismos":[193],"associados":[196],"\u00e0":[197],"FCHL":[198],"amplificados":[200],"PCR":[202],"submetidos":[204],"sequencia\u00e7\u00e3o":[206],"directa.":[207],"grandes":[211],"rearranjos":[212],"foi":[216],"efectuado":[217],"MLPA.":[219],"Dos":[220],"estudados,":[223],"7":[224],"(35%)":[225],"n\u00e3o":[226],"apresentaram":[227,237,251,259],"nenhum":[230],"estudo,":[234],"6":[235,249],"(30%)":[236,250],"1":[242],"(5%)":[243],"apresentou":[244],"altera\u00e7\u00e3o":[245],"APOA-IV,":[248],"APOA-V":[255],"11":[257],"(55%)":[258],"N\u00e3o":[264],"identificadas":[266],"nos":[268],"APOC-II":[270],"APOC-III.":[272],"identifica\u00e7\u00e3o":[274,284],"permite":[281],"correcta":[283],"patologia":[286],"detec\u00e7\u00e3o":[289],"precoce":[290],"familiares":[292],"afectados,":[293],"permitindo":[294],"melhor":[296],"orienta\u00e7\u00e3o":[297],"terap\u00eautica,":[298],"subsequente":[301],"redu\u00e7\u00e3o":[302],"cardiovasculares":[307],"prematuras.":[308]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
