{"id":"https://openalex.org/W4417153122","doi":"https://doi.org/10.14309/crj.0000000000001917","title":"Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease","display_name":"Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease","publication_year":2025,"publication_date":"2025-12-01","ids":{"openalex":"https://openalex.org/W4417153122","doi":"https://doi.org/10.14309/crj.0000000000001917","pmid":"https://pubmed.ncbi.nlm.nih.gov/41357559"},"language":"en","primary_location":{"id":"doi:10.14309/crj.0000000000001917","doi":"https://doi.org/10.14309/crj.0000000000001917","is_oa":true,"landing_page_url":"https://doi.org/10.14309/crj.0000000000001917","pdf_url":null,"source":{"id":"https://openalex.org/S2765032114","display_name":"ACG Case Reports Journal","issn_l":"2326-3253","issn":["2326-3253"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"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-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"ACG Case Reports Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.14309/crj.0000000000001917","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044687197","display_name":"Ariel Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ariel Lee","raw_affiliation_strings":["Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056495415","display_name":"Taaj Raasikh","orcid":"https://orcid.org/0000-0002-8955-7547","observed_orcids":["https://orcid.org/0000-0002-8955-7547"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Taaj Raasikh","raw_affiliation_strings":["Division of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040948734","display_name":"Saroja D. Bangaru","orcid":"https://orcid.org/0000-0002-1881-8332","observed_orcids":["https://orcid.org/0000-0002-1881-8332"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Saroja Bangaru","raw_affiliation_strings":["Division of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057770104","display_name":"Shoji Yano","orcid":"https://orcid.org/0000-0001-5565-9572","observed_orcids":["https://orcid.org/0000-0001-5565-9572"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shoji Yano","raw_affiliation_strings":["Genetics Division, Department of Pediatrics, Los Angeles General Medical Center, University of Southern California, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Division, Department of Pediatrics, Los Angeles General Medical Center, University of Southern California, Los Angeles, CA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072791054","display_name":"Shefali Chopra","orcid":"https://orcid.org/0000-0003-3611-626X","observed_orcids":["https://orcid.org/0000-0003-3611-626X"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shefali Chopra","raw_affiliation_strings":["Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090536973","display_name":"Takeshi Saito","orcid":"https://orcid.org/0000-0002-6165-664X","observed_orcids":["https://orcid.org/0000-0002-6165-664X"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Takeshi Saito","raw_affiliation_strings":["Division of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I1174212"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5090536973"],"corresponding_institution_ids":["https://openalex.org/I1174212"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.35354015,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":"12","first_page":"e01917","last_page":"e01917"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9794999957084656,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9794999957084656,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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":0.00930000003427267,"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"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.007000000216066837,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/cholesteryl-ester-storage-disease","display_name":"cholesterol ester storage disease","score":0.9959999918937683},{"id":"https://openalex.org/keywords/hepatic-steatosis","display_name":"hepatic steatosis","score":0.8410000205039978},{"id":"https://openalex.org/keywords/lysosomal-acid-lipase-deficiency","display_name":"lysosomal acid lipase deficiency","score":0.9990000128746033},{"id":"https://openalex.org/keywords/late-onset-disease","display_name":"late-onset disease","score":0.6169999837875366},{"id":"https://openalex.org/keywords/microvesicular-steatosis","display_name":"microvesicular steatosis","score":0.8669999837875366},{"id":"https://openalex.org/keywords/liver-cirrhosis","display_name":"liver cirrhosis","score":0.9079999923706055},{"id":"https://openalex.org/keywords/sebelipase-alfa","display_name":"sebelipase alfa","score":0.8510000109672546},{"id":"https://openalex.org/keywords/enzyme-replacement-therapy","display_name":"enzyme replacement therapy","score":0.984000027179718},{"id":"https://openalex.org/keywords/elevated-liver-enzymes","display_name":"elevated liver enzymes","score":0.8859999775886536}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7001000046730042},{"id":"https://openalex.org/C2776448209","wikidata":"https://www.wikidata.org/wiki/Q415555","display_name":"Cholesteryl ester","level":4,"score":0.6671000123023987},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6082000136375427},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.5659999847412109},{"id":"https://openalex.org/C2776175330","wikidata":"https://www.wikidata.org/wiki/Q1365091","display_name":"Steatosis","level":2,"score":0.5210000276565552},{"id":"https://openalex.org/C45505151","wikidata":"https://www.wikidata.org/wiki/Q424706","display_name":"Cholesterylester transfer protein","level":4,"score":0.4334000051021576},{"id":"https://openalex.org/C4733338","wikidata":"https://www.wikidata.org/wiki/Q2792936","display_name":"Lipid metabolism","level":2,"score":0.4318000078201294},{"id":"https://openalex.org/C2777735490","wikidata":"https://www.wikidata.org/wiki/Q2351083","display_name":"Metabolic disorder","level":2,"score":0.4106999933719635},{"id":"https://openalex.org/C2778772119","wikidata":"https://www.wikidata.org/wiki/Q6058862","display_name":"Fatty liver","level":3,"score":0.3864000141620636},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.38269999623298645},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3727000057697296},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.3677000105381012},{"id":"https://openalex.org/C3018696855","wikidata":"https://www.wikidata.org/wiki/Q1414805","display_name":"Multisystem disease","level":3,"score":0.367000013589859},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.36469998955726624},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3582000136375427},{"id":"https://openalex.org/C2778264360","wikidata":"https://www.wikidata.org/wiki/Q675010","display_name":"Lysosomal storage disease","level":3,"score":0.353300005197525},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.34209999442100525},{"id":"https://openalex.org/C3020359197","wikidata":"https://www.wikidata.org/wiki/Q1359801","display_name":"Liver enzyme","level":2,"score":0.3151000142097473},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.31279999017715454},{"id":"https://openalex.org/C2779697368","wikidata":"https://www.wikidata.org/wiki/Q380967","display_name":"Lipase","level":3,"score":0.31200000643730164},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3000999987125397},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.2946000099182129},{"id":"https://openalex.org/C2910777643","wikidata":"https://www.wikidata.org/wiki/Q2448873","display_name":"Elevated liver enzymes","level":3,"score":0.29330000281333923},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.2833999991416931},{"id":"https://openalex.org/C2779969927","wikidata":"https://www.wikidata.org/wiki/Q916766","display_name":"Enzyme replacement therapy","level":3,"score":0.2816999852657318},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2770000100135803},{"id":"https://openalex.org/C2780213950","wikidata":"https://www.wikidata.org/wiki/Q908765","display_name":"Hepatic lipase","level":4,"score":0.27129998803138733},{"id":"https://openalex.org/C2909799055","wikidata":"https://www.wikidata.org/wiki/Q2792936","display_name":"Lipid Metabolism Disorder","level":4,"score":0.2581999897956848}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.14309/crj.0000000000001917","doi":"https://doi.org/10.14309/crj.0000000000001917","is_oa":true,"landing_page_url":"https://doi.org/10.14309/crj.0000000000001917","pdf_url":null,"source":{"id":"https://openalex.org/S2765032114","display_name":"ACG Case Reports Journal","issn_l":"2326-3253","issn":["2326-3253"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"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-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"ACG Case Reports Journal","raw_type":"journal-article"},{"id":"pmid:41357559","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41357559","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":"ACG case reports journal","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.14309/crj.0000000000001917","doi":"https://doi.org/10.14309/crj.0000000000001917","is_oa":true,"landing_page_url":"https://doi.org/10.14309/crj.0000000000001917","pdf_url":null,"source":{"id":"https://openalex.org/S2765032114","display_name":"ACG Case Reports Journal","issn_l":"2326-3253","issn":["2326-3253"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"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-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"ACG Case Reports Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":8,"referenced_works":["https://openalex.org/W2544249908","https://openalex.org/W2741355356","https://openalex.org/W2993754364","https://openalex.org/W3212065365","https://openalex.org/W4285294223","https://openalex.org/W4289779181","https://openalex.org/W4362635398","https://openalex.org/W4409358038"],"related_works":[],"abstract_inverted_index":{"Cholesteryl":[0],"ester":[1,41],"storage":[2,42],"disease":[3,43,90],"is":[4],"a":[5,36,45,59],"rare":[6],"genetic":[7],"disorder":[8],"caused":[9],"by":[10],"mutations":[11],"in":[12,17,44,83,91],"the":[13,74,92],"LIPA":[14,61],"gene,":[15],"resulting":[16],"lysosomal":[18],"acid":[19],"lipase":[20],"deficiency,":[21],"which":[22],"leads":[23],"to":[24],"abnormal":[25],"accumulation":[26],"of":[27,38,53,76,80,94],"cholesteryl":[28,40],"esters":[29],"and":[30,56],"triglycerides":[31],"within":[32],"lysosomes.":[33],"We":[34],"describe":[35],"case":[37,72],"late-onset":[39],"woman":[46],"with":[47,58,68,87],"elevated":[48],"liver":[49,89],"enzymes,":[50],"histologic":[51],"evidence":[52],"microvesicular":[54],"steatosis":[55],"cirrhosis,":[57],"confirmed":[60],"mutation,":[62],"who":[63],"initiated":[64],"enzyme":[65],"replacement":[66],"therapy":[67],"sebelipase":[69],"alfa.":[70],"This":[71],"highlights":[73],"importance":[75],"considering":[77],"hereditary":[78],"disorders":[79],"lipid":[81],"metabolism":[82],"patients":[84],"presenting":[85],"unexpectedly":[86],"steatotic":[88],"absence":[93],"significant":[95],"metabolic":[96],"risk":[97],"factors.":[98]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-12-09T00:00:00"}