{"id":"https://openalex.org/W4206145348","doi":"https://doi.org/10.1542/peds.51.6.998","title":"PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS","display_name":"PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS","publication_year":1973,"publication_date":"1973-06-01","ids":{"openalex":"https://openalex.org/W4206145348","doi":"https://doi.org/10.1542/peds.51.6.998"},"language":"en","primary_location":{"id":"doi:10.1542/peds.51.6.998","doi":"https://doi.org/10.1542/peds.51.6.998","is_oa":false,"landing_page_url":"https://doi.org/10.1542/peds.51.6.998","pdf_url":null,"source":{"id":"https://openalex.org/S77494981","display_name":"PEDIATRICS","issn_l":"0031-4005","issn":["0031-4005","1098-4275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315734","host_organization_name":"American Academy of Pediatrics","host_organization_lineage":["https://openalex.org/P4310315734"],"host_organization_lineage_names":["American Academy of Pediatrics"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5037734477","display_name":"Mark C. Ballow","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark Ballow","raw_affiliation_strings":["Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112808324","display_name":"Carmi Z. Margolis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carmi Margolis","raw_affiliation_strings":["Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044680942","display_name":"Bernard P. Schachtel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bernard Schachtel","raw_affiliation_strings":["Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110305206","display_name":"Y. Edward Hsia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Y. Edward Hsia","raw_affiliation_strings":["Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yale University School of Medicine, Departments of Pediatrics and Human Genetics, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":null,"apc_paid":null,"fwci":2.5505,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.91067425,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"51","issue":"6","first_page":"998","last_page":"1007"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.9990000128746033,"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"}},"topics":[{"id":"https://openalex.org/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.9990000128746033,"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/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.0006000000284984708,"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/T11834","display_name":"Liver Diseases and Immunity","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2721","display_name":"Hepatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/progressive-familial-intrahepatic-cholestasis","display_name":"progressive familial intrahepatic cholestasis","score":0.9850000143051147},{"id":"https://openalex.org/keywords/familial-intrahepatic-cholestasis","display_name":"familial intrahepatic cholestasis","score":0.8009999990463257},{"id":"https://openalex.org/keywords/bile-stasis","display_name":"bile stasis","score":0.6449999809265137},{"id":"https://openalex.org/keywords/conjugated-hyperbilirubinemia","display_name":"conjugated hyperbilirubinemia","score":0.8510000109672546},{"id":"https://openalex.org/keywords/rickets","display_name":"rickets","score":0.6370000243186951},{"id":"https://openalex.org/keywords/fat-soluble-vitamin-deficiency","display_name":"fat-soluble vitamin deficiency","score":0.9710000157356262},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8489999771118164},{"id":"https://openalex.org/keywords/benign-recurrent-intrahepatic-cholestasis","display_name":"benign recurrent intrahepatic cholestasis","score":0.9459999799728394},{"id":"https://openalex.org/keywords/liver-histopathology","display_name":"liver histopathology","score":0.49900001287460327},{"id":"https://openalex.org/keywords/pruritus","display_name":"pruritus","score":0.5540000200271606},{"id":"https://openalex.org/keywords/malabsorption","display_name":"malabsorption","score":0.8519999980926514}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.885420560836792},{"id":"https://openalex.org/C2778593092","wikidata":"https://www.wikidata.org/wiki/Q1075923","display_name":"Cholestasis","level":2,"score":0.8411201238632202},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.7302955389022827},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.647609531879425},{"id":"https://openalex.org/C160160445","wikidata":"https://www.wikidata.org/wiki/Q24769688","display_name":"Alkaline phosphatase","level":3,"score":0.601730227470398},{"id":"https://openalex.org/C2776489590","wikidata":"https://www.wikidata.org/wiki/Q183392","display_name":"Rickets","level":3,"score":0.527379035949707},{"id":"https://openalex.org/C2777969384","wikidata":"https://www.wikidata.org/wiki/Q17011974","display_name":"Elevated alkaline phosphatase","level":4,"score":0.5159255266189575},{"id":"https://openalex.org/C2778456037","wikidata":"https://www.wikidata.org/wiki/Q133244","display_name":"Jaundice","level":2,"score":0.49111315608024597},{"id":"https://openalex.org/C2779243279","wikidata":"https://www.wikidata.org/wiki/Q659033","display_name":"Biliary atresia","level":4,"score":0.4782761037349701},{"id":"https://openalex.org/C2778132995","wikidata":"https://www.wikidata.org/wiki/Q1018534","display_name":"Progressive familial intrahepatic cholestasis","level":4,"score":0.434403657913208},{"id":"https://openalex.org/C2780788601","wikidata":"https://www.wikidata.org/wiki/Q12233655","display_name":"Intrahepatic bile ducts","level":3,"score":0.4168374538421631},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3761022686958313},{"id":"https://openalex.org/C124490489","wikidata":"https://www.wikidata.org/wiki/Q7936963","display_name":"Vitamin D and neurology","level":2,"score":0.2675860524177551},{"id":"https://openalex.org/C2779777945","wikidata":"https://www.wikidata.org/wiki/Q851111","display_name":"Bile duct","level":2,"score":0.23131701350212097},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.07410907745361328},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.0},{"id":"https://openalex.org/C2779609443","wikidata":"https://www.wikidata.org/wiki/Q1368191","display_name":"Liver transplantation","level":3,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1542/peds.51.6.998","doi":"https://doi.org/10.1542/peds.51.6.998","is_oa":false,"landing_page_url":"https://doi.org/10.1542/peds.51.6.998","pdf_url":null,"source":{"id":"https://openalex.org/S77494981","display_name":"PEDIATRICS","issn_l":"0031-4005","issn":["0031-4005","1098-4275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315734","host_organization_name":"American Academy of Pediatrics","host_organization_lineage":["https://openalex.org/P4310315734"],"host_organization_lineage_names":["American Academy of Pediatrics"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1600735463","https://openalex.org/W2166050745","https://openalex.org/W4401545343","https://openalex.org/W2319609136","https://openalex.org/W2077342153","https://openalex.org/W162113137","https://openalex.org/W2467521298","https://openalex.org/W375284117","https://openalex.org/W2552561851","https://openalex.org/W2405800533"],"abstract_inverted_index":{"Two":[0],"brothers":[1,135],"with":[2,127,141],"an":[3,83,128],"early":[4],"onset":[5],"of":[6,38,42,49,57,82,86,117,132],"fluctuating":[7],"jaundice,":[8],"pruritus,":[9],"malabsorption,":[10],"and":[11,32,40,55,69,75,138],"rickets":[12,39],"are":[13,80],"reported.":[14],"Biochemical":[15],"features":[16],"included":[17],"conjugated":[18],"hyperbilirubinemia,":[19],"elevated":[20,26,28],"alkaline":[21],"phosphatase,":[22],"normal":[23],"cholesterol,":[24],"slightly":[25],"transaminase,":[27],"serum":[29],"bile":[30,53,60],"salts,":[31],"hypoglycemia.":[33],"There":[34],"was":[35],"also":[36],"evidence":[37],"deficiency":[41],"the":[43,50,58,108],"fat":[44],"soluble":[45],"vitamins.":[46],"Histological":[47],"appearance":[48],"liver":[51,70],"showed":[52],"stasis":[54],"paucity":[56],"interlobular":[59],"ducts.":[61],"The":[62],"familial":[63,87],"incidence,":[64],"clinical":[65],"course,":[66],"biochemical":[67],"findings,":[68],"histology":[71],"in":[72,76,107],"our":[73],"cases":[74],"similar":[77],"reported":[78],"cases,":[79],"distinctive":[81],"intermediate":[84],"form":[85],"progressive":[88],"intrahepatic":[89,94,103,118],"cholestasis,":[90],"milder":[91],"than":[92,100],"congenital":[93],"biliary":[95],"atresia,":[96],"but":[97],"more":[98],"severe":[99],"benign":[101],"recurrent":[102],"cholestasis.":[104],"A":[105],"defect":[106],"hepatic":[109],"excretory":[110],"mechanism":[111],"is":[112],"postulated":[113],"for":[114],"this":[115],"group":[116],"cholestatic":[119],"disorders":[120],"which":[121],"appear":[122],"to":[123],"be":[124],"genetically":[125],"determined":[126],"autosomal":[129],"recessive":[130],"pattern":[131],"inheritance.":[133],"Both":[134],"had":[136],"symptomatic":[137],"chemical":[139],"improvement":[140],"phenobarbital":[142],"therapy.":[143]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2022-01-26T00:00:00"}
