{"id":"https://openalex.org/W2201526166","doi":"https://doi.org/10.1016/j.jacl.2015.11.013","title":"Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community","display_name":"Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community","publication_year":2015,"publication_date":"2015-12-12","ids":{"openalex":"https://openalex.org/W2201526166","doi":"https://doi.org/10.1016/j.jacl.2015.11.013","mag":"2201526166","pmid":"https://pubmed.ncbi.nlm.nih.gov/27055977"},"language":"en","primary_location":{"id":"doi:10.1016/j.jacl.2015.11.013","doi":"https://doi.org/10.1016/j.jacl.2015.11.013","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jacl.2015.11.013","pdf_url":null,"source":{"id":"https://openalex.org/S205040759","display_name":"Journal of clinical lipidology","issn_l":"1876-4789","issn":["1876-4789","1933-2874"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Lipidology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5101909092","display_name":"Lars H. Andersen","orcid":"https://orcid.org/0000-0003-2352-4395","observed_orcids":["https://orcid.org/0000-0003-2352-4395"]},"institutions":[{"id":"https://openalex.org/I2802497677","display_name":"Lancaster General Hospital","ror":"https://ror.org/03s2fmv96","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2802497677"]},{"id":"https://openalex.org/I4210143392","display_name":"University of Pennsylvania Health System","ror":"https://ror.org/04h81rw26","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210143392"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lars Andersen","raw_affiliation_strings":["Lancaster General Health Research Institute, Lancaster General Health/Penn Medicine, Lancaster, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lancaster General Health Research Institute, Lancaster General Health/Penn Medicine, Lancaster, PA","institution_ids":["https://openalex.org/I2802497677","https://openalex.org/I4210143392"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067906160","display_name":"Joseluis Ibarra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802497677","display_name":"Lancaster General Hospital","ror":"https://ror.org/03s2fmv96","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2802497677"]},{"id":"https://openalex.org/I4210143392","display_name":"University of Pennsylvania Health System","ror":"https://ror.org/04h81rw26","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210143392"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseluis Ibarra","raw_affiliation_strings":["Preventive Cardiology and Apheresis Clinic, The Heart Group of Lancaster General Health/Penn Medicine, Lancaster, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Preventive Cardiology and Apheresis Clinic, The Heart Group of Lancaster General Health/Penn Medicine, Lancaster, PA","institution_ids":["https://openalex.org/I2802497677","https://openalex.org/I4210143392"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110417933","display_name":"Rolf L. Andersen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802497677","display_name":"Lancaster General Hospital","ror":"https://ror.org/03s2fmv96","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2802497677"]},{"id":"https://openalex.org/I4210143392","display_name":"University of Pennsylvania Health System","ror":"https://ror.org/04h81rw26","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210143392"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rolf Andersen","raw_affiliation_strings":["Preventive Cardiology and Apheresis Clinic, The Heart Group of Lancaster General Health/Penn Medicine, Lancaster, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Preventive Cardiology and Apheresis Clinic, The Heart Group of Lancaster General Health/Penn Medicine, Lancaster, PA","institution_ids":["https://openalex.org/I2802497677","https://openalex.org/I4210143392"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3510,"currency":"USD","value_usd":3510},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.12613048,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"10","issue":"2","first_page":"443","last_page":"444"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T13430","display_name":"Lipid metabolism and disorders","score":0.0017999999690800905,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.9380000233650208},{"id":"https://openalex.org/keywords/apob-mutations","display_name":"APOB mutations","score":0.9629999995231628},{"id":"https://openalex.org/keywords/diagnostic-criteria","display_name":"diagnostic criteria","score":0.5339999794960022},{"id":"https://openalex.org/keywords/underdiagnosis","display_name":"underdiagnosis","score":0.796999990940094},{"id":"https://openalex.org/keywords/amish","display_name":"Amish","score":0.7889999747276306},{"id":"https://openalex.org/keywords/familial-defective-apolipoprotein-b-100","display_name":"familial defective apolipoprotein B-100","score":0.8629999756813049},{"id":"https://openalex.org/keywords/ldl-receptor","display_name":"LDL receptor","score":0.625},{"id":"https://openalex.org/keywords/pcsk9","display_name":"PCSK9","score":0.996999979019165},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.8220000267028809},{"id":"https://openalex.org/keywords/ldl-cholesterol","display_name":"LDL cholesterol","score":0.4869999885559082},{"id":"https://openalex.org/keywords/hypercholesterolemia-screening","display_name":"hypercholesterolemia screening","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9521391987800598},{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.8712911605834961},{"id":"https://openalex.org/C62746215","wikidata":"https://www.wikidata.org/wiki/Q14890615","display_name":"Apolipoprotein B","level":3,"score":0.6024583578109741},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3828381597995758},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32924091815948486},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.29183000326156616},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.09137868881225586},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012111","descriptor_name":"Residence Characteristics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053299","descriptor_name":"Apolipoprotein B-100","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D061365","descriptor_name":"Amish","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.jacl.2015.11.013","doi":"https://doi.org/10.1016/j.jacl.2015.11.013","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jacl.2015.11.013","pdf_url":null,"source":{"id":"https://openalex.org/S205040759","display_name":"Journal of clinical lipidology","issn_l":"1876-4789","issn":["1876-4789","1933-2874"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Lipidology","raw_type":"journal-article"},{"id":"pmid:27055977","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27055977","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":"Journal of clinical lipidology","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W52088619","https://openalex.org/W1449361217","https://openalex.org/W1893696402","https://openalex.org/W1964303007","https://openalex.org/W1964572884","https://openalex.org/W1974139761","https://openalex.org/W1974452327","https://openalex.org/W1976146353","https://openalex.org/W1989703443","https://openalex.org/W1993194335","https://openalex.org/W1995320163","https://openalex.org/W2022429441","https://openalex.org/W2023633885","https://openalex.org/W2028030617","https://openalex.org/W2028342318","https://openalex.org/W2036481033","https://openalex.org/W2040612932","https://openalex.org/W2043912099","https://openalex.org/W2051563725","https://openalex.org/W2054119723","https://openalex.org/W2080682860","https://openalex.org/W2082002745","https://openalex.org/W2082643036","https://openalex.org/W2114918865","https://openalex.org/W2116451199","https://openalex.org/W2116679918","https://openalex.org/W2126306074","https://openalex.org/W2143322928","https://openalex.org/W2151675684","https://openalex.org/W2155766749","https://openalex.org/W2157372280","https://openalex.org/W2183092516","https://openalex.org/W2395128797","https://openalex.org/W2462505038","https://openalex.org/W2575600667","https://openalex.org/W2943032204","https://openalex.org/W4249898731","https://openalex.org/W6602158080","https://openalex.org/W6639642181","https://openalex.org/W6641121018","https://openalex.org/W6643713911","https://openalex.org/W6661725980","https://openalex.org/W6712040594"],"related_works":["https://openalex.org/W1554561011","https://openalex.org/W2010412420","https://openalex.org/W2515555873","https://openalex.org/W7075644623","https://openalex.org/W3095035129","https://openalex.org/W4407307523","https://openalex.org/W4413268941","https://openalex.org/W3021918215","https://openalex.org/W4387737531","https://openalex.org/W4388595771"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}