{"id":"https://openalex.org/W4403552003","doi":"https://doi.org/10.1002/jpr3.12131","title":"Extrahepatic biliary atresia and normal\u2010range serum gamma\u2010glutamyltranspeptidase activity: A case report","display_name":"Extrahepatic biliary atresia and normal\u2010range serum gamma\u2010glutamyltranspeptidase activity: A case report","publication_year":2024,"publication_date":"2024-10-17","ids":{"openalex":"https://openalex.org/W4403552003","doi":"https://doi.org/10.1002/jpr3.12131","pmid":"https://pubmed.ncbi.nlm.nih.gov/39610416"},"language":"en","primary_location":{"id":"doi:10.1002/jpr3.12131","doi":"https://doi.org/10.1002/jpr3.12131","is_oa":true,"landing_page_url":"https://doi.org/10.1002/jpr3.12131","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jpr3.12131","source":{"id":"https://openalex.org/S4210240671","display_name":"JPGN Reports","issn_l":"2691-171X","issn":["2691-171X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JPGN Reports","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jpr3.12131","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5043562853","display_name":"Benno Kohlmaier","orcid":"https://orcid.org/0000-0003-0685-689X","observed_orcids":["https://orcid.org/0000-0003-0685-689X"]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]},{"id":"https://openalex.org/I202276237","display_name":"Medical University of Graz","ror":"https://ror.org/02n0bts35","country_code":"AT","type":"education","lineage":["https://openalex.org/I202276237"]}],"countries":["AT"],"is_corresponding":true,"raw_author_name":"Benno Kohlmaier","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria","Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria"],"raw_orcid":"https://orcid.org/0000-0003-0685-689X","affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria","institution_ids":["https://openalex.org/I15766117","https://openalex.org/I202276237"]},{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria","institution_ids":["https://openalex.org/I202276237"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112944675","display_name":"Heidelis Tichy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I202276237","display_name":"Medical University of Graz","ror":"https://ror.org/02n0bts35","country_code":"AT","type":"education","lineage":["https://openalex.org/I202276237"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Heidelis Tichy","raw_affiliation_strings":["Diagnostic and Research Institute of Human Genetics Medical University of Graz Graz Austria","Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostic and Research Institute of Human Genetics Medical University of Graz Graz Austria","institution_ids":["https://openalex.org/I202276237"]},{"raw_affiliation_string":"Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria","institution_ids":["https://openalex.org/I202276237"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036031492","display_name":"Jasmin Blatterer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I202276237","display_name":"Medical University of Graz","ror":"https://ror.org/02n0bts35","country_code":"AT","type":"education","lineage":["https://openalex.org/I202276237"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Jasmin Blatterer","raw_affiliation_strings":["Diagnostic and Research Institute of Human Genetics Medical University of Graz Graz Austria","Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostic and Research Institute of Human Genetics Medical University of Graz Graz Austria","institution_ids":["https://openalex.org/I202276237"]},{"raw_affiliation_string":"Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria","institution_ids":["https://openalex.org/I202276237"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037650415","display_name":"Holger Till","orcid":"https://orcid.org/0000-0002-1350-596X","observed_orcids":["https://orcid.org/0000-0002-1350-596X"]},"institutions":[{"id":"https://openalex.org/I202276237","display_name":"Medical University of Graz","ror":"https://ror.org/02n0bts35","country_code":"AT","type":"education","lineage":["https://openalex.org/I202276237"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Holger Till","raw_affiliation_strings":["Department of Paediatric and Adolescent Surgery Medical University of Graz Graz Austria","Department of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric and Adolescent Surgery Medical University of Graz Graz Austria","institution_ids":["https://openalex.org/I202276237"]},{"raw_affiliation_string":"Department of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria","institution_ids":["https://openalex.org/I202276237"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085899981","display_name":"Axel Schlagenhauf","orcid":"https://orcid.org/0000-0003-3408-6415","observed_orcids":["https://orcid.org/0000-0003-3408-6415"]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]},{"id":"https://openalex.org/I202276237","display_name":"Medical University of Graz","ror":"https://ror.org/02n0bts35","country_code":"AT","type":"education","lineage":["https://openalex.org/I202276237"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Axel Schlagenhauf","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria","Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria","institution_ids":["https://openalex.org/I15766117","https://openalex.org/I202276237"]},{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria","institution_ids":["https://openalex.org/I202276237"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064600273","display_name":"Alexander S. Knisely","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I15766117","display_name":"University of Graz","ror":"https://ror.org/01faaaf77","country_code":"AT","type":"education","lineage":["https://openalex.org/I15766117"]},{"id":"https://openalex.org/I202276237","display_name":"Medical University of Graz","ror":"https://ror.org/02n0bts35","country_code":"AT","type":"education","lineage":["https://openalex.org/I202276237"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"A. S. Knisely","raw_affiliation_strings":["Diagnostic and Research Institute of Pathology Medical University of Graz Graz Austria","Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostic and Research Institute of Pathology Medical University of Graz Graz Austria","institution_ids":["https://openalex.org/I202276237"]},{"raw_affiliation_string":"Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria","institution_ids":["https://openalex.org/I15766117","https://openalex.org/I202276237"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5043562853"],"corresponding_institution_ids":["https://openalex.org/I15766117","https://openalex.org/I202276237"],"apc_list":{"value":1900,"currency":"USD","value_usd":1900},"apc_paid":{"value":1900,"currency":"USD","value_usd":1900},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.29966252,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"5","issue":"4","first_page":"533","last_page":"537"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":1.0,"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":1.0,"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/T11834","display_name":"Liver Diseases and Immunity","score":0.0,"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"}},{"id":"https://openalex.org/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/extrahepatic-biliary-atresia","display_name":"extrahepatic biliary atresia","score":0.9509999752044678},{"id":"https://openalex.org/keywords/infants","display_name":"infants","score":0.41499999165534973},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.781000018119812},{"id":"https://openalex.org/keywords/biliary-obstruction","display_name":"biliary obstruction","score":0.4480000138282776}],"concepts":[{"id":"https://openalex.org/C2779243279","wikidata":"https://www.wikidata.org/wiki/Q659033","display_name":"Biliary atresia","level":4,"score":0.9480583071708679},{"id":"https://openalex.org/C2778593092","wikidata":"https://www.wikidata.org/wiki/Q1075923","display_name":"Cholestasis","level":2,"score":0.7588298320770264},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.728670597076416},{"id":"https://openalex.org/C2780890998","wikidata":"https://www.wikidata.org/wiki/Q6993476","display_name":"Neonatal cholestasis","level":5,"score":0.6617145538330078},{"id":"https://openalex.org/C2781149206","wikidata":"https://www.wikidata.org/wiki/Q757722","display_name":"Atresia","level":2,"score":0.6500994563102722},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6277803182601929},{"id":"https://openalex.org/C2781197716","wikidata":"https://www.wikidata.org/wiki/Q864574","display_name":"Biomarker","level":2,"score":0.6018860936164856},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5077810883522034},{"id":"https://openalex.org/C2781278919","wikidata":"https://www.wikidata.org/wiki/Q285870","display_name":"Gamma-glutamyltransferase","level":3,"score":0.4659591317176819},{"id":"https://openalex.org/C2780971011","wikidata":"https://www.wikidata.org/wiki/Q1544408","display_name":"Alagille syndrome","level":3,"score":0.4553322494029999},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2291834056377411},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.14645570516586304},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.09031292796134949},{"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/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1002/jpr3.12131","doi":"https://doi.org/10.1002/jpr3.12131","is_oa":true,"landing_page_url":"https://doi.org/10.1002/jpr3.12131","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jpr3.12131","source":{"id":"https://openalex.org/S4210240671","display_name":"JPGN Reports","issn_l":"2691-171X","issn":["2691-171X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JPGN Reports","raw_type":"journal-article"},{"id":"pmid:39610416","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39610416","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":"JPGN reports","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11600354","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11600354","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11600354/pdf/JPR3-5-533.pdf","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JPGN Rep","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1002/jpr3.12131","doi":"https://doi.org/10.1002/jpr3.12131","is_oa":true,"landing_page_url":"https://doi.org/10.1002/jpr3.12131","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jpr3.12131","source":{"id":"https://openalex.org/S4210240671","display_name":"JPGN Reports","issn_l":"2691-171X","issn":["2691-171X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JPGN Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.6700000166893005,"id":"https://metadata.un.org/sdg/1","display_name":"No poverty"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4403552003.pdf","grobid_xml":"https://content.openalex.org/works/W4403552003.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W1973684273","https://openalex.org/W2031762491","https://openalex.org/W2043829492","https://openalex.org/W2053465842","https://openalex.org/W2056386643","https://openalex.org/W2071147380","https://openalex.org/W2087217939","https://openalex.org/W2099081805","https://openalex.org/W2147232946","https://openalex.org/W2198556160","https://openalex.org/W2294994252","https://openalex.org/W2408034695","https://openalex.org/W2555382250","https://openalex.org/W2768850539","https://openalex.org/W2983778460","https://openalex.org/W4297896447"],"related_works":["https://openalex.org/W2079349048","https://openalex.org/W2286118967","https://openalex.org/W1996425417","https://openalex.org/W2911020349","https://openalex.org/W2021976969","https://openalex.org/W4243108438","https://openalex.org/W2345892831","https://openalex.org/W2182846209","https://openalex.org/W4362657168","https://openalex.org/W4313488206"],"abstract_inverted_index":{"An":[0],"infant":[1],"with":[2,36,55,59,71],"biliary":[3,19,26,97],"atresia":[4,27],"had":[5],"normal-range":[6],"('low')":[7],"serum":[8],"gamma-glutamyltranspeptidase":[9],"(GGT)":[10],"activity,":[11],"exceptional":[12],"because":[13],"GGT":[14,95],"generally":[15],"is":[16,34],"elevated":[17],"in":[18,25,41,47,50,80,96],"atresia.":[20,98],"Mechanisms":[21],"underlying":[22],"low-GGT":[23,60],"cholestasis":[24],"are":[28],"not":[29],"defined,":[30],"but":[31],"the":[32],"phenomenon":[33],"associated":[35,54],"worse":[37],"clinical":[38],"outcome.":[39],"Testing":[40],"our":[42],"patient":[43],"revealed":[44],"no":[45],"variants":[46],"genes":[48],"mutated":[49],"several":[51],"disorders":[52,89],"also":[53],"poor":[56],"prognosis":[57],"and":[58,90],"cholestasis;":[61],"indeed,":[62],"at":[63],"age":[64],"14":[65],"months":[66],"she":[67],"has":[68],"stable":[69],"disease":[70],"unremarkable":[72],"biomarker":[73],"values.":[74],"Nonetheless,":[75],"we":[76],"recommend":[77],"extended":[78],"investigations":[79],"such":[81],"patients,":[82],"including":[83],"genetic":[84],"testing,":[85],"to":[86,91],"detect":[87],"coexistent":[88],"expand":[92],"understanding":[93],"of":[94]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-10-10T00:00:00"}
