{"id":"https://openalex.org/W2394857524","doi":null,"title":"Progressive familial intrahepatic cholestasis.","display_name":"Progressive familial intrahepatic cholestasis.","publication_year":2002,"publication_date":"2002-01-01","ids":{"openalex":"https://openalex.org/W2394857524","mag":"2394857524","pmid":"https://pubmed.ncbi.nlm.nih.gov/12596388"},"language":"en","primary_location":{"id":"pmid:12596388","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12596388","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":"Acta bio-medica : Atenei Parmensis","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5032074249","display_name":"Giulia Martina Cavestro","orcid":"https://orcid.org/0000-0003-1947-9368","observed_orcids":["https://orcid.org/0000-0003-1947-9368"]},"institutions":[{"id":"https://openalex.org/I124601658","display_name":"University of Parma","ror":"https://ror.org/02k7wn190","country_code":"IT","type":"education","lineage":["https://openalex.org/I124601658"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giulia Martina Cavestro","raw_affiliation_strings":["Dept. of Clinical Science, Chair of Gastroenterology, University of Parma, Parma. giuliamartina@yahoo.it","Dept. of Clinical Science, Chair of Gastroenterology, University of Parma, Parma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Science, Chair of Gastroenterology, University of Parma, Parma. giuliamartina@yahoo.it","institution_ids":["https://openalex.org/I124601658"]},{"raw_affiliation_string":"Dept. of Clinical Science, Chair of Gastroenterology, University of Parma, Parma","institution_ids":["https://openalex.org/I124601658"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028819527","display_name":"Luca Frulloni","orcid":"https://orcid.org/0000-0001-7417-2655","observed_orcids":["https://orcid.org/0000-0001-7417-2655"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Luca Frulloni","raw_affiliation_strings":["University of Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073324835","display_name":"Elena Cerati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I124601658","display_name":"University of Parma","ror":"https://ror.org/02k7wn190","country_code":"IT","type":"education","lineage":["https://openalex.org/I124601658"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elena Cerati","raw_affiliation_strings":["University of Parma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Parma","institution_ids":["https://openalex.org/I124601658"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Luciana Andrea Ribeiro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I124601658","display_name":"University of Parma","ror":"https://ror.org/02k7wn190","country_code":"IT","type":"education","lineage":["https://openalex.org/I124601658"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Luciana Andrea Ribeiro","raw_affiliation_strings":["University of Parma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Parma","institution_ids":["https://openalex.org/I124601658"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030248307","display_name":"Vincenzo Corrente","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vincenzo Corrente","raw_affiliation_strings":["Endoscopical Unit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endoscopical Unit","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077595823","display_name":"Mario Sianesi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I124601658","display_name":"University of Parma","ror":"https://ror.org/02k7wn190","country_code":"IT","type":"education","lineage":["https://openalex.org/I124601658"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Mario Sianesi","raw_affiliation_strings":["University of Parma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Parma","institution_ids":["https://openalex.org/I124601658"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077601354","display_name":"A. Franz\u00e8","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I124601658","display_name":"University of Parma","ror":"https://ror.org/02k7wn190","country_code":"IT","type":"education","lineage":["https://openalex.org/I124601658"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Angelo Franz\u00e8","raw_affiliation_strings":["University of Parma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Parma","institution_ids":["https://openalex.org/I124601658"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087843942","display_name":"Francesco Di Mario","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I124601658","display_name":"University of Parma","ror":"https://ror.org/02k7wn190","country_code":"IT","type":"education","lineage":["https://openalex.org/I124601658"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesco Di Mario","raw_affiliation_strings":["University of Parma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Parma","institution_ids":["https://openalex.org/I124601658"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":46,"citation_normalized_percentile":{"value":0.32109407,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"73","issue":"3-4","first_page":"53","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.7925000190734863,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.7925000190734863,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.20100000500679016,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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":0.0012000000569969416,"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/progressive-familial-intrahepatic-cholestasis","display_name":"progressive familial intrahepatic cholestasis","score":1.0},{"id":"https://openalex.org/keywords/byler-disease","display_name":"Byler disease","score":0.9470000267028809},{"id":"https://openalex.org/keywords/benign-recurrent-intrahepatic-cholestasis","display_name":"benign recurrent intrahepatic cholestasis","score":0.9350000023841858},{"id":"https://openalex.org/keywords/bile-salt-export-pump","display_name":"bile salt export pump","score":0.6320000290870667},{"id":"https://openalex.org/keywords/abcb4","display_name":"ABCB4","score":0.6439999938011169},{"id":"https://openalex.org/keywords/multidrug-resistance-protein","display_name":"multidrug resistance protein","score":0.7239999771118164},{"id":"https://openalex.org/keywords/neonatal-cholestasis","display_name":"neonatal cholestasis","score":0.7540000081062317},{"id":"https://openalex.org/keywords/liver-failure","display_name":"liver failure","score":0.8939999938011169},{"id":"https://openalex.org/keywords/portal-hypertension","display_name":"portal hypertension","score":0.925000011920929},{"id":"https://openalex.org/keywords/ursodeoxycholic-acid","display_name":"ursodeoxycholic acid","score":0.9300000071525574},{"id":"https://openalex.org/keywords/biliary-diversion","display_name":"biliary diversion","score":0.8479999899864197},{"id":"https://openalex.org/keywords/liver-transplantation","display_name":"liver transplantation","score":0.8349999785423279}],"concepts":[{"id":"https://openalex.org/C2778132995","wikidata":"https://www.wikidata.org/wiki/Q1018534","display_name":"Progressive familial intrahepatic cholestasis","level":4,"score":0.9630115032196045},{"id":"https://openalex.org/C2778593092","wikidata":"https://www.wikidata.org/wiki/Q1075923","display_name":"Cholestasis","level":2,"score":0.7086858749389648},{"id":"https://openalex.org/C2779609443","wikidata":"https://www.wikidata.org/wiki/Q1368191","display_name":"Liver transplantation","level":3,"score":0.6974503397941589},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6236804127693176},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.6235803365707397},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5762627720832825},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.5172749161720276},{"id":"https://openalex.org/C2910800957","wikidata":"https://www.wikidata.org/wiki/Q15315873","display_name":"Bile Salt Export Pump","level":4,"score":0.5077561140060425},{"id":"https://openalex.org/C2780965833","wikidata":"https://www.wikidata.org/wiki/Q241374","display_name":"Ursodeoxycholic acid","level":2,"score":0.4741784334182739},{"id":"https://openalex.org/C2779224579","wikidata":"https://www.wikidata.org/wiki/Q60195073","display_name":"Cholestasis of pregnancy","level":4,"score":0.4368916153907776},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.3916670083999634},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1800735592842102},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12369692325592041},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10489481687545776},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.09816411137580872},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0849885642528534},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D002780","descriptor_name":"Cholestasis, Intrahepatic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002780","descriptor_name":"Cholestasis, Intrahepatic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:12596388","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12596388","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":"Acta bio-medica : Atenei Parmensis","raw_type":"Journal Article"},{"id":"pmh:oai:iris.unisr.it:20.500.11768/11586","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/20.500.11768/11586","pdf_url":null,"source":{"id":"https://openalex.org/S7407055348","display_name":"Archivio Istituzionale della Ricerca - Universit\u00e0 Vita-Salute San Raffaele","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":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2394857524","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12596388","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":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2132126874","https://openalex.org/W4304541763","https://openalex.org/W2055790607","https://openalex.org/W1519470521","https://openalex.org/W2122438519","https://openalex.org/W2996497172","https://openalex.org/W2157291177","https://openalex.org/W1967794048","https://openalex.org/W3175885611","https://openalex.org/W2062699636"],"abstract_inverted_index":{"Progressive":[0],"familial":[1],"intrahepatic":[2],"cholestasis":[3,13,34],"(PFIC)":[4],"is":[5,31,59,76,149],"a":[6,85,90,123,152],"heterogeneous":[7],"group":[8],"of":[9,14,63,110,126,137,146],"autosomal":[10],"recessive":[11],"childhood":[12],"hepatocellular":[15],"origin.":[16],"PFIC":[17,50,73,80,113],"1,":[18,51],"also":[19],"known":[20],"as":[21,173],"Byler":[22],"disease,":[23,66],"was":[24],"first":[25],"described":[26],"in":[27,37,69,92,101,106,118,155,177],"Amish":[28],"kindred.":[29],"It":[30],"characterized":[32],"by":[33],"often":[35],"arising":[36],"the":[38,60,64,70,93,102,107,156,174,188],"neonatal":[39],"period":[40],"and":[41,104,120,131,166],"it":[42,83,121],"leads":[43],"to":[44,47,79,151,186],"death":[45],"due":[46],"liver":[48,103,132,182],"failure.":[49,133],"like":[52],"Benign":[53],"Recurrent":[54],"Intrahepatic":[55],"Cholestasis":[56],"(BRIC)":[57],"which":[58],"benign":[61],"form":[62,136],"same":[65],"recognizes":[67],"mutations":[68],"ATP8B1":[71],"gene.":[72],"2":[74],"disease":[75,138],"clinically":[77],"similar":[78],"1":[81],"but":[82],"has":[84,122],"different":[86],"gene":[87],"mutation":[88],"causing":[89],"defect":[91,154],"Bile":[94],"Salt":[95],"Export":[96],"Pump":[97],"(BSEP),":[98],"exclusively":[99],"expressed":[100],"involved":[105],"canalicular":[108],"secretion":[109],"bile":[111],"acids.":[112],"3":[114],"usually":[115],"appears":[116],"later":[117],"life":[119],"higher":[124],"risk":[125],"portal":[127],"hypertension,":[128],"gastrointestinal":[129],"bleeding":[130],"This":[134],"particular":[135],"(the":[139],"only":[140,189],"one":[141],"with":[142],"high":[143],"serum":[144],"values":[145],"g-glutamil":[147],"transpeptidase),":[148],"associated":[150],"genetic":[153],"class":[157],"III":[158],"multidrug":[159],"resistance":[160],"protein":[161],"(MDR).":[162],"External":[163],"biliary":[164],"diversion":[165],"ursodeoxycholic":[167],"acid":[168],"therapy,":[169],"should":[170],"be":[171,187],"considered":[172],"initial":[175],"therapy":[176],"these":[178],"patients,":[179],"even":[180],"if":[181],"transplantation":[183],"still":[184],"seems":[185],"solution":[190],"for":[191],"most":[192],"patients.":[193]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":12},{"year":2019,"cited_by_count":7},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}