{"id":"https://openalex.org/W4377939724","doi":"https://doi.org/10.1111/liv.15620","title":"Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry","display_name":"Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry","publication_year":2023,"publication_date":"2023-05-24","ids":{"openalex":"https://openalex.org/W4377939724","doi":"https://doi.org/10.1111/liv.15620","pmid":"https://pubmed.ncbi.nlm.nih.gov/37222260"},"language":"en","primary_location":{"id":"doi:10.1111/liv.15620","doi":"https://doi.org/10.1111/liv.15620","is_oa":true,"landing_page_url":"https://doi.org/10.1111/liv.15620","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/liv.15620","source":{"id":"https://openalex.org/S206392846","display_name":"Liver International","issn_l":"0106-9543","issn":["0106-9543","1478-3223","1478-3231","1600-0676"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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":"Liver International","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/liv.15620","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027941722","display_name":"Manisha Balwani","orcid":"https://orcid.org/0000-0001-8047-5011","observed_orcids":["https://orcid.org/0000-0001-8047-5011"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Manisha Balwani","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA"],"raw_orcid":"https://orcid.org/0000-0001-8047-5011","affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067934543","display_name":"William F. Balistreri","orcid":"https://orcid.org/0000-0002-7051-8839","observed_orcids":["https://orcid.org/0000-0002-7051-8839"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William Balistreri","raw_affiliation_strings":["UC Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UC Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050927122","display_name":"Lorenzo D\u2019Antiga","orcid":"https://orcid.org/0000-0001-7150-3148","observed_orcids":["https://orcid.org/0000-0001-7150-3148"]},"institutions":[{"id":"https://openalex.org/I4210106645","display_name":"Ospedale Papa Giovanni XXIII","ror":"https://ror.org/01savtv33","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210106645"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Lorenzo D'Antiga","raw_affiliation_strings":["Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy"],"raw_orcid":"https://orcid.org/0000-0001-7150-3148","affiliations":[{"raw_affiliation_string":"Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy","institution_ids":["https://openalex.org/I4210106645"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jennifer Evans","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210125492","display_name":"Alexion Pharmaceuticals (United States)","ror":"https://ror.org/031ywxc85","country_code":"US","type":"company","lineage":["https://openalex.org/I4210125492"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer Evans","raw_affiliation_strings":["Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I4210125492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071950571","display_name":"Emilio Ros","orcid":"https://orcid.org/0000-0002-2573-1294","observed_orcids":["https://orcid.org/0000-0002-2573-1294"]},"institutions":[{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Emilio Ros","raw_affiliation_strings":["Endocrinology &amp; Nutrition Service Hospital Clinic de Barcelona Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrinology &amp; Nutrition Service Hospital Clinic de Barcelona Barcelona Spain","institution_ids":["https://openalex.org/I4210115097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109055541","display_name":"Florian Abel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210125492","display_name":"Alexion Pharmaceuticals (United States)","ror":"https://ror.org/031ywxc85","country_code":"US","type":"company","lineage":["https://openalex.org/I4210125492"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Florian Abel","raw_affiliation_strings":["Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I4210125492"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013367402","display_name":"Don P. Wilson","orcid":"https://orcid.org/0000-0002-2815-4816","observed_orcids":["https://orcid.org/0000-0002-2815-4816"]},"institutions":[{"id":"https://openalex.org/I4210090149","display_name":"Cook Children's Medical Center","ror":"https://ror.org/009z5t729","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210090149","https://openalex.org/I4210102753"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Don P. Wilson","raw_affiliation_strings":["Endocrinology, Cook Children's Medical Center, Fort Worth, Texas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrinology, Cook Children's Medical Center, Fort Worth, Texas, USA","institution_ids":["https://openalex.org/I4210090149"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5027941722"],"corresponding_institution_ids":["https://openalex.org/I98704320"],"apc_list":{"value":4740,"currency":"USD","value_usd":4740},"apc_paid":{"value":4740,"currency":"USD","value_usd":4740},"fwci":5.2037,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":{"value":0.96525333,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"43","issue":"7","first_page":"1537","last_page":"1547"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0007999999797903001,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0005000000237487257,"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/lysosomal-acid-lipase-deficiency","display_name":"lysosomal acid lipase deficiency","score":1.0},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.7080000042915344},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.6890000104904175},{"id":"https://openalex.org/keywords/hepatomegaly","display_name":"hepatomegaly","score":0.8489999771118164},{"id":"https://openalex.org/keywords/dyslipidemia","display_name":"dyslipidemia","score":0.8360000252723694},{"id":"https://openalex.org/keywords/hepatic-steatosis","display_name":"hepatic steatosis","score":0.7310000061988831},{"id":"https://openalex.org/keywords/liver-fibrosis","display_name":"liver fibrosis","score":0.9190000295639038},{"id":"https://openalex.org/keywords/liver-cirrhosis","display_name":"liver cirrhosis","score":0.8820000290870667},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.32199999690055847},{"id":"https://openalex.org/keywords/adults","display_name":"adults","score":0.49799999594688416}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7761152982711792},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6260875463485718},{"id":"https://openalex.org/C2776175330","wikidata":"https://www.wikidata.org/wiki/Q1365091","display_name":"Steatosis","level":2,"score":0.6042119264602661},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.5748006105422974},{"id":"https://openalex.org/C2777214474","wikidata":"https://www.wikidata.org/wiki/Q147778","display_name":"Cirrhosis","level":2,"score":0.47078579664230347},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4552927315235138},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.45377641916275024},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.42988812923431396},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.07928553223609924},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005234","descriptor_name":"Fatty Liver","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006529","descriptor_name":"Hepatomegaly","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008103","descriptor_name":"Liver Cirrhosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D015223","descriptor_name":"Wolman Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D015223","descriptor_name":"Wolman Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D015223","descriptor_name":"Wolman Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050171","descriptor_name":"Dyslipidemias","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D050171","descriptor_name":"Dyslipidemias","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1111/liv.15620","doi":"https://doi.org/10.1111/liv.15620","is_oa":true,"landing_page_url":"https://doi.org/10.1111/liv.15620","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/liv.15620","source":{"id":"https://openalex.org/S206392846","display_name":"Liver International","issn_l":"0106-9543","issn":["0106-9543","1478-3223","1478-3231","1600-0676"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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":"Liver International","raw_type":"journal-article"},{"id":"pmid:37222260","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37222260","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":"Liver international : official journal of the International Association for the Study of the Liver","raw_type":"Journal Article"},{"id":"pmh:oai:boa.unimib.it:10281/473785","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/10281/473785","pdf_url":null,"source":{"id":"https://openalex.org/S4306401259","display_name":"BOA (University of Milano-Bicocca)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I66752286","host_organization_name":"University of Milano-Bicocca","host_organization_lineage":["https://openalex.org/I66752286"],"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"}],"best_oa_location":{"id":"doi:10.1111/liv.15620","doi":"https://doi.org/10.1111/liv.15620","is_oa":true,"landing_page_url":"https://doi.org/10.1111/liv.15620","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/liv.15620","source":{"id":"https://openalex.org/S206392846","display_name":"Liver International","issn_l":"0106-9543","issn":["0106-9543","1478-3223","1478-3231","1600-0676"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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":"Liver International","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309052","display_name":"Alexion Pharmaceuticals","ror":"https://ror.org/031ywxc85"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4377939724.pdf"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W1178631282","https://openalex.org/W1995292072","https://openalex.org/W1997618612","https://openalex.org/W2066660611","https://openalex.org/W2142468239","https://openalex.org/W2303553415","https://openalex.org/W2328315454","https://openalex.org/W2554103304","https://openalex.org/W2593857933","https://openalex.org/W2620440087","https://openalex.org/W2889661452","https://openalex.org/W2950528096","https://openalex.org/W2985867279","https://openalex.org/W3003360920","https://openalex.org/W3012930636","https://openalex.org/W3041586003"],"related_works":["https://openalex.org/W3134493954","https://openalex.org/W2303553415","https://openalex.org/W1997618612","https://openalex.org/W4399812380","https://openalex.org/W2784224390","https://openalex.org/W2979331939","https://openalex.org/W3158763203","https://openalex.org/W2903597351","https://openalex.org/W2981325952","https://openalex.org/W4328014599"],"abstract_inverted_index":{"BACKGROUND":[0],"AND":[1],"AIMS:":[2],"Lysosomal":[3,24],"acid":[4],"lipase":[5],"deficiency":[6],"(LAL-D)":[7],"is":[8,41,230],"a":[9],"rare,":[10],"autosomal":[11],"recessive":[12],"disease":[13,143],"involving":[14],"lysosomal":[15],"accumulation":[16],"of":[17,81,142,183,248],"cholesteryl":[18],"esters":[19],"and":[20,38,77,89,120,148,153,165,201,204,219,239,244],"triglycerides.":[21],"The":[22,136],"International":[23],"Acid":[25],"Lipase":[26],"Deficiency":[27],"Registry":[28],"(NCT01633489),":[29],"established":[30],"in":[31],"2013":[32],"to":[33,43,86,130],"understand":[34],"LAL-D":[35,225],"natural":[36],"history":[37],"long-term":[39],"outcomes,":[40],"accessible":[42],"centres":[44],"caring":[45],"for":[46,170],"patients":[47,97,184,211],"diagnosed":[48,91],"by":[49],"deficient":[50],"LAL":[51],"activity":[52],"and/or":[53],"biallelic":[54],"pathogenic":[55,177],"LIPA":[56,160],"variants.":[57],"We":[58],"describe":[59],"the":[60,171],"registry":[61],"population":[62],"enrolled":[63],"through":[64],"2":[65],"May":[66],"2022.":[67],"METHODS:":[68],"In":[69],"this":[70],"prospective":[71],"observational":[72],"study,":[73],"we":[74],"analysed":[75],"demographic":[76],"baseline":[78],"clinical":[79],"characteristics":[80],"children":[82],"(ages":[83],"\u22656":[84],"months":[85],"<18":[87],"years)":[88],"adults":[90],"with":[92,98,106,158,189,212,237],"LAL-D.":[93,249],"RESULTS:":[94],"Of":[95,209],"228":[96],"confirmed":[99],"disease,":[100],"61%":[101],"were":[102,110,144,163,167],"children;":[103],"202/220":[104],"(92%)":[105],"data":[107],"on":[108],"race":[109],"white.":[111],"Median":[112],"age":[113],"was":[114,133],"5.5":[115],"years":[116,122],"at":[117,123],"sign/symptom":[118,128],"onset":[119,129],"10.5":[121],"diagnosis;":[124],"median":[125],"time":[126],"from":[127],"diagnostic":[131],"testing":[132],"3.3":[134],"years.":[135],"most":[137],"common":[138,172],"manifestations":[139],"raising":[140],"suspicion":[141,243],"elevated":[145],"alanine":[146],"(70%)":[147],"aspartate":[149],"aminotransferase":[150],"levels":[151,235],"(67%)":[152],"hepatomegaly":[154,238],"(63%).":[155],"Among":[156,187],"157":[157],"reported":[159],"mutations,":[161],"70":[162],"homozygous":[164],"45":[166],"compound":[168],"heterozygous":[169],"exon":[173],"8":[174],"splice":[175],"junction":[176],"variant":[178],"(E8SJM-1).":[179],"Seventy":[180],"percent":[181],"(159/228)":[182],"had":[185,193,198,206,216,221],"dyslipidaemia.":[186],"118":[188],"liver":[190],"biopsies,":[191],"63%":[192],"microvesicular":[194],"steatosis":[195,203],"exclusively,":[196],"23%":[197],"mixed":[199],"micro-":[200],"macrovesicular":[202],"47%":[205],"lobular":[207],"inflammation.":[208],"78":[210],"fibrosis-stage":[213],"data,":[214],"37%":[215],"bridging":[217],"fibrosis":[218],"14%":[220],"cirrhosis.":[222],"CONCLUSIONS:":[223],"Although":[224],"signs/symptoms":[226],"occur":[227],"early,":[228],"diagnosis":[229,247],"often":[231],"delayed.":[232],"Abnormal":[233],"transaminase":[234],"associated":[236],"dyslipidaemia":[240],"should":[241],"raise":[242],"prompt":[245],"earlier":[246],"TRIAL":[250],"REGISTRATION":[251],"NUMBER:":[252],"NCT01633489.":[253]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":5}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2023-05-25T00:00:00"}