{"id":"https://openalex.org/W57216993","doi":"https://doi.org/10.1023/a:1005552106301","title":"Defects in activation and transport of fatty acids","display_name":"Defects in activation and transport of fatty acids","publication_year":1999,"publication_date":"1999-06-01","ids":{"openalex":"https://openalex.org/W57216993","doi":"https://doi.org/10.1023/a:1005552106301","mag":"57216993","pmid":"https://pubmed.ncbi.nlm.nih.gov/10407779"},"language":"en","primary_location":{"id":"doi:10.1023/a:1005552106301","doi":"https://doi.org/10.1023/a:1005552106301","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1005552106301","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},"volume":null,"type":"review","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/A5003984014","display_name":"M. Brivet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Brivet","raw_affiliation_strings":["Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France","institution_ids":["https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020430798","display_name":"Audrey Boutron","orcid":"https://orcid.org/0000-0001-7652-8715","observed_orcids":["https://orcid.org/0000-0001-7652-8715"]},"institutions":[{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Boutron","raw_affiliation_strings":["Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France","institution_ids":["https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074815292","display_name":"Abdelhamid Slama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Slama","raw_affiliation_strings":["Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France","institution_ids":["https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":null,"display_name":"C. Costa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Costa","raw_affiliation_strings":["Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France","institution_ids":["https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041307281","display_name":"Laure Thuillier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L. Thuillier","raw_affiliation_strings":["Department of Biochemistry H\u00f4pital Necker  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry H\u00f4pital Necker  Paris France","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109802471","display_name":"France Demaugre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F. Demaugre","raw_affiliation_strings":["INSERM U370, H\u00f4pital Necker  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U370, H\u00f4pital Necker  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110037799","display_name":"Daniel Rabier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"D. Rabier","raw_affiliation_strings":["Department of Biochemistry H\u00f4pital Necker  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry H\u00f4pital Necker  Paris France","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062746059","display_name":"Jean\u2010Marie Saudubray","orcid":"https://orcid.org/0000-0003-2010-9831","observed_orcids":["https://orcid.org/0000-0003-2010-9831"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. M. Saudubray","raw_affiliation_strings":["Department of Pediatrics H\u00f4pital Necker  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics H\u00f4pital Necker  Paris France","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012849140","display_name":"Jean\u2010Paul Bonnefont","orcid":"https://orcid.org/0000-0002-4235-1197","observed_orcids":["https://orcid.org/0000-0002-4235-1197"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. P. Bonnefont","raw_affiliation_strings":["Department of Biochemistry H\u00f4pital Necker  Paris France","INSERM U393, H\u00f4pital Necker  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry H\u00f4pital Necker  Paris France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"INSERM U393, H\u00f4pital Necker  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":1.0381,"has_fulltext":false,"cited_by_count":64,"citation_normalized_percentile":{"value":0.70588235,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"22","issue":"4","first_page":"428","last_page":"441"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":1.0,"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":1.0,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.0,"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"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/long-chain-fatty-acid-oxidation","display_name":"long-chain fatty acid oxidation","score":0.8519999980926514},{"id":"https://openalex.org/keywords/carnitine-palmitoyltransferase-ii-deficiency","display_name":"carnitine palmitoyltransferase II deficiency","score":0.9549999833106995},{"id":"https://openalex.org/keywords/carnitine-acylcarnitine-translocase-deficiency","display_name":"carnitine-acylcarnitine translocase deficiency","score":0.9819999933242798},{"id":"https://openalex.org/keywords/fatty-acid-activation","display_name":"fatty acid activation","score":0.7210000157356262},{"id":"https://openalex.org/keywords/mitochondrial-fatty-acid-transport","display_name":"mitochondrial fatty acid transport","score":0.6330000162124634},{"id":"https://openalex.org/keywords/exercise-induced-rhabdomyolysis","display_name":"exercise-induced rhabdomyolysis","score":0.9259999990463257},{"id":"https://openalex.org/keywords/reye-like-syndrome","display_name":"Reye-like syndrome","score":0.925000011920929},{"id":"https://openalex.org/keywords/fasting-hypoglycaemia","display_name":"fasting hypoglycaemia","score":0.9449999928474426},{"id":"https://openalex.org/keywords/acylcarnitine-profile","display_name":"acylcarnitine profile","score":0.8389999866485596},{"id":"https://openalex.org/keywords/plasma-carnitine","display_name":"plasma carnitine","score":0.6909999847412109},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9179999828338623},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.6019999980926514}],"concepts":[{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.9278219938278198},{"id":"https://openalex.org/C2776423169","wikidata":"https://www.wikidata.org/wiki/Q412898","display_name":"Carnitine O-palmitoyltransferase","level":4,"score":0.7611469030380249},{"id":"https://openalex.org/C113035283","wikidata":"https://www.wikidata.org/wiki/Q909555","display_name":"Translocase","level":4,"score":0.7529828548431396},{"id":"https://openalex.org/C82714985","wikidata":"https://www.wikidata.org/wiki/Q306213","display_name":"Beta oxidation","level":3,"score":0.6081271171569824},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.46980008482933044},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4651295840740204},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44485634565353394},{"id":"https://openalex.org/C543025807","wikidata":"https://www.wikidata.org/wiki/Q61476","display_name":"Fatty acid","level":2,"score":0.4298977255821228},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.42400434613227844},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.41789379715919495},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.33232057094573975},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1951882243156433},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.1919824779033661},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06874844431877136}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001692","descriptor_name":"Biological Transport","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D002334","descriptor_name":"Carnitine O-Palmitoyltransferase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D005227","descriptor_name":"Fatty Acids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010084","descriptor_name":"Oxidation-Reduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1023/a:1005552106301","doi":"https://doi.org/10.1023/a:1005552106301","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1005552106301","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:10407779","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10407779","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 inherited metabolic disease","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":66,"referenced_works":["https://openalex.org/W33735155","https://openalex.org/W156869561","https://openalex.org/W1220882216","https://openalex.org/W1483242733","https://openalex.org/W1495212988","https://openalex.org/W1547384695","https://openalex.org/W1554450601","https://openalex.org/W1557009310","https://openalex.org/W1577348758","https://openalex.org/W1582208830","https://openalex.org/W1596095455","https://openalex.org/W1598643430","https://openalex.org/W1668855587","https://openalex.org/W1906744057","https://openalex.org/W1963751785","https://openalex.org/W1965614986","https://openalex.org/W1978945178","https://openalex.org/W1979038368","https://openalex.org/W1982757830","https://openalex.org/W1983653450","https://openalex.org/W1984981644","https://openalex.org/W1985933484","https://openalex.org/W1986876315","https://openalex.org/W1991456979","https://openalex.org/W1994420775","https://openalex.org/W1994659410","https://openalex.org/W2001205503","https://openalex.org/W2002584435","https://openalex.org/W2012866642","https://openalex.org/W2016408839","https://openalex.org/W2017731348","https://openalex.org/W2022414521","https://openalex.org/W2026577234","https://openalex.org/W2026892813","https://openalex.org/W2030802624","https://openalex.org/W2031846075","https://openalex.org/W2032119759","https://openalex.org/W2041885357","https://openalex.org/W2045235398","https://openalex.org/W2053850872","https://openalex.org/W2056085236","https://openalex.org/W2059857586","https://openalex.org/W2061539324","https://openalex.org/W2063367773","https://openalex.org/W2063659004","https://openalex.org/W2068643532","https://openalex.org/W2070329997","https://openalex.org/W2071352607","https://openalex.org/W2078964520","https://openalex.org/W2080229128","https://openalex.org/W2080352301","https://openalex.org/W2085451633","https://openalex.org/W2086003796","https://openalex.org/W2086671332","https://openalex.org/W2094263447","https://openalex.org/W2094960623","https://openalex.org/W2098728010","https://openalex.org/W2132730662","https://openalex.org/W2134258772","https://openalex.org/W2156590328","https://openalex.org/W2327833169","https://openalex.org/W2328560710","https://openalex.org/W2341162657","https://openalex.org/W2410364578","https://openalex.org/W4205775889","https://openalex.org/W4238639221"],"related_works":["https://openalex.org/W2065637031","https://openalex.org/W2134258772","https://openalex.org/W2327833169","https://openalex.org/W3015237447","https://openalex.org/W2060494021","https://openalex.org/W7097682589","https://openalex.org/W4230926112","https://openalex.org/W1597979403","https://openalex.org/W4301484455","https://openalex.org/W2111433432"],"abstract_inverted_index":{"The":[0,100,227],"oxidation":[1,178],"of":[2,38,76,104,121,134,139,151,157,165,185,188,196,206,213,223,231],"long-chain":[3],"fatty":[4,23,77,176],"acids":[5,78],"in":[6,12,16,30,72,91,96,137,174,181],"mitochondria":[7],"plays":[8],"an":[9,109],"important":[10],"role":[11],"energy":[13],"production,":[14],"especially":[15],"skeletal":[17],"muscle,":[18],"heart":[19],"and":[20,64,67,74,98,127,142,160,173,202,225,235],"liver.":[21],"Long-chain":[22],"acids,":[24],"activated":[25],"to":[26,87],"their":[27],"CoA":[28],"esters":[29],"the":[31,36,39,44,105,149,186,194,197,204],"cytosol,":[32],"are":[33,130,155],"shuttled":[34],"across":[35],"barrier":[37],"inner":[40],"mitochondrial":[41],"membrane":[42,56],"by":[43,53,118,169],"carnitine":[45,57,60,106,140,152,162,198],"cycle.":[46],"This":[47],"pathway":[48],"includes":[49],"four":[50,81],"steps,":[51],"mediated":[52],"a":[54,68],"plasma":[55,158,166],"transporter,":[58],"two":[59],"palmitoyltransferases":[61],"(CPT":[62],"I":[63,114,234],"CPT":[65,83,113,214,233],"II)":[66],"carnitine-acylcarnitine":[69],"translocase.":[70,143],"Defects":[71],"activation":[73],"uptake":[75],"affect":[79],"these":[80],"steps:":[82],"II":[84,215],"deficiency":[85,115],"leads":[86],"either":[88],"exercise-induced":[89],"rhabdomyolysis":[90],"adults":[92],"or":[93],"hepatocardiomuscular":[94],"symptoms":[95],"neonates":[97],"children.":[99],"three":[101],"other":[102],"disorders":[103,154],"cycle":[107,153],"have":[108],"early":[110],"onset.":[111],"Hepatic":[112],"is":[116],"characterized":[117],"recurrent":[119],"episodes":[120,133],"Reye-like":[122],"syndrome,":[123],"whereas":[124],"severe":[125],"muscular":[126],"cardiac":[128],"signs":[129],"associated":[131],"with":[132],"fasting":[135],"hypoglycaemia":[136],"defects":[138,216],"transport":[141],"Convenient":[144],"metabolic":[145],"investigations":[146],"for":[147,221],"reaching":[148],"diagnosis":[150],"determination":[156,164],"free":[159],"total":[161],"concentrations,":[163],"acylcarnitine":[167],"profile":[168],"tandem":[170],"mass":[171],"spectrometry":[172],"vitro":[175],"acid":[177],"studies,":[179],"particularly":[180],"fresh":[182],"lymphocytes.":[183],"Application":[184],"tools":[187],"molecular":[189,229],"biology":[190],"has":[191,217],"greatly":[192],"aided":[193],"understanding":[195],"palmitoyltransferase":[199],"enzyme":[200],"system":[201],"confirmed":[203],"existence":[205],"different":[207],"related":[208],"genetic":[209],"diseases.":[210],"Mutation":[211],"analysis":[212],"given":[218],"some":[219],"clues":[220],"correlation":[222],"genotype":[224],"phenotype.":[226],"first":[228],"analyses":[230],"hepatic":[232],"translocase":[236],"deficiencies":[237],"were":[238],"recently":[239],"reported.":[240]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
