{"id":"https://openalex.org/W2095664992","doi":"https://doi.org/10.1016/j.ymgme.2008.02.002","title":"Cardiomyopathy and carnitine deficiency","display_name":"Cardiomyopathy and carnitine deficiency","publication_year":2008,"publication_date":"2008-03-13","ids":{"openalex":"https://openalex.org/W2095664992","doi":"https://doi.org/10.1016/j.ymgme.2008.02.002","mag":"2095664992","pmid":"https://pubmed.ncbi.nlm.nih.gov/18337137","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2430214"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2008.02.002","doi":"https://doi.org/10.1016/j.ymgme.2008.02.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2008.02.002","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/articles/PMC2430214","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5077730829","display_name":"Cristina Amat Di San Filippo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cristina Amat di San Filippo","raw_affiliation_strings":["Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066041440","display_name":"Matthew R.G. Taylor","orcid":"https://orcid.org/0000-0001-9043-0810","observed_orcids":["https://orcid.org/0000-0001-9043-0810"]},"institutions":[{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew R.G. Taylor","raw_affiliation_strings":["Department of Medicine, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA","institution_ids":["https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067654253","display_name":"Luisa Mestroni","orcid":"https://orcid.org/0000-0003-1116-2286","observed_orcids":["https://orcid.org/0000-0003-1116-2286"]},"institutions":[{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luisa Mestroni","raw_affiliation_strings":["Department of Medicine, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA","institution_ids":["https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043230326","display_name":"Lorenzo D. Botto","orcid":"https://orcid.org/0000-0002-5322-7116","observed_orcids":["https://orcid.org/0000-0002-5322-7116"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lorenzo D. Botto","raw_affiliation_strings":["Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102908490","display_name":"Nicola Longo","orcid":"https://orcid.org/0000-0002-3677-1216","observed_orcids":["https://orcid.org/0000-0002-3677-1216"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nicola Longo","raw_affiliation_strings":["Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5102908490"],"corresponding_institution_ids":["https://openalex.org/I223532165"],"apc_list":{"value":3680,"currency":"USD","value_usd":3680},"apc_paid":null,"fwci":5.0905,"has_fulltext":false,"cited_by_count":72,"citation_normalized_percentile":{"value":0.95810398,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"94","issue":"2","first_page":"162","last_page":"166"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9911999702453613,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9911999702453613,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.006599999964237213,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/primary-carnitine-deficiency","display_name":"primary carnitine deficiency","score":0.8930000066757202},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.8569999933242798},{"id":"https://openalex.org/keywords/octn2","display_name":"OCTN2","score":0.8619999885559082},{"id":"https://openalex.org/keywords/slc22a5","display_name":"SLC22A5","score":0.9919999837875366},{"id":"https://openalex.org/keywords/carnitine-transporter","display_name":"carnitine transporter","score":0.8100000023841858},{"id":"https://openalex.org/keywords/heterozygosity","display_name":"heterozygosity","score":0.9459999799728394},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8339999914169312},{"id":"https://openalex.org/keywords/long-chain-fatty-acid-beta-oxidation","display_name":"long-chain fatty acid beta-oxidation","score":0.8429999947547913},{"id":"https://openalex.org/keywords/hypoketotic-hypoglycemia","display_name":"hypoketotic hypoglycemia","score":0.875},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7170000076293945},{"id":"https://openalex.org/keywords/cho-cells","display_name":"CHO cells","score":0.671999990940094}],"concepts":[{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.8203001022338867},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.6794475317001343},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.6288110613822937},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5592658519744873},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5530816912651062},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.548500120639801},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5287891030311584},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5187092423439026},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5069763660430908},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.41777709126472473},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.28867560625076294},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2883729636669159},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21278071403503418},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18060967326164246},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.13561126589775085},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.08976292610168457},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000074058","descriptor_name":"Solute Carrier Family 22 Member 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D003412","descriptor_name":"Cricetulus","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006224","descriptor_name":"Cricetinae","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016466","descriptor_name":"CHO Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D027701","descriptor_name":"Organic Cation Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D027701","descriptor_name":"Organic Cation Transport Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.ymgme.2008.02.002","doi":"https://doi.org/10.1016/j.ymgme.2008.02.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2008.02.002","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"pmid:18337137","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18337137","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":"Molecular genetics and metabolism","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:1451885","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC2430214","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:2430214","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2430214","pdf_url":null,"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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Mol Genet Metab","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:1451885","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC2430214","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1682441725","display_name":null,"funder_award_id":"DK 53824","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G454013822","display_name":"THE CARNITINE TRANSPORTER IN HUMAN DISEASE","funder_award_id":"R01DK053824","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4567733944","display_name":null,"funder_award_id":"1K23HL67915-01A1","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5853261428","display_name":"Colorado Clinical and Translational Sciences Institute","funder_award_id":"UL1TR001082","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7152169952","display_name":"Familial Dilated Cardiomyopathy:Genetic Characterization","funder_award_id":"K23HL067915","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W1605353467","https://openalex.org/W1965607919","https://openalex.org/W1993102792","https://openalex.org/W1993193666","https://openalex.org/W2003402389","https://openalex.org/W2004235323","https://openalex.org/W2026939537","https://openalex.org/W2030589953","https://openalex.org/W2035877518","https://openalex.org/W2039920883","https://openalex.org/W2055946810","https://openalex.org/W2060494021","https://openalex.org/W2064158135","https://openalex.org/W2064760018","https://openalex.org/W2072938074","https://openalex.org/W2100288994","https://openalex.org/W2102450407","https://openalex.org/W2110246713","https://openalex.org/W2120713978","https://openalex.org/W2120722168","https://openalex.org/W2129302503","https://openalex.org/W2137615358","https://openalex.org/W2142535130","https://openalex.org/W2157245920","https://openalex.org/W2161310946","https://openalex.org/W3175452021","https://openalex.org/W3209992856"],"related_works":["https://openalex.org/W2153838764","https://openalex.org/W4389038987","https://openalex.org/W1993102792","https://openalex.org/W2087119291","https://openalex.org/W2021280646","https://openalex.org/W1523065463","https://openalex.org/W1569055531","https://openalex.org/W2050150384","https://openalex.org/W4251181388","https://openalex.org/W198472986"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":5}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}