{"id":"https://openalex.org/W2016408839","doi":"https://doi.org/10.1203/00006450-198809000-00006","title":"Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities","display_name":"Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities","publication_year":1988,"publication_date":"1988-09-01","ids":{"openalex":"https://openalex.org/W2016408839","doi":"https://doi.org/10.1203/00006450-198809000-00006","mag":"2016408839","pmid":"https://pubmed.ncbi.nlm.nih.gov/3211616"},"language":"en","primary_location":{"id":"doi:10.1203/00006450-198809000-00006","doi":"https://doi.org/10.1203/00006450-198809000-00006","is_oa":false,"landing_page_url":"https://doi.org/10.1203/00006450-198809000-00006","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},"volume":null,"type":"article","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/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":"France Demaugre","raw_affiliation_strings":["D\u00e9partement de Biochimie, INSERM U75, CHU Necker, Paris, France","D\u00e9partement de Biochimie, INSERM U75, CHU Necker, Paris, Cedex 15, 75730, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie, INSERM U75, CHU Necker, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488"]},{"raw_affiliation_string":"D\u00e9partement de Biochimie, INSERM U75, CHU Necker, Paris, Cedex 15, 75730, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488"]}]},{"author_position":"middle","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/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":"Jean-Paul Bonnefont","raw_affiliation_strings":["Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049088657","display_name":"Grant A. Mitchell","orcid":"https://orcid.org/0000-0002-0804-3676","observed_orcids":["https://orcid.org/0000-0002-0804-3676"]},"institutions":[{"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":"Grant Mitchell","raw_affiliation_strings":["Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Nam Nguyen-Hoang","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":"Nam Nguyen-Hoang","raw_affiliation_strings":["D\u00e9partement de Biochimie, INSERM U75, CHU Necker, Paris, Cedex 15, 75730, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie, INSERM U75, CHU Necker, Paris, Cedex 15, 75730, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002737264","display_name":"Anna Pelet","orcid":"https://orcid.org/0000-0002-8353-1725","observed_orcids":["https://orcid.org/0000-0002-8353-1725"]},"institutions":[{"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":"Anna Pelet","raw_affiliation_strings":["Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103491266","display_name":"Marco Rimoldi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marco Rimoldi","raw_affiliation_strings":["Neurometabolic Disease Laboratory, Istituto Neurological \u201cC. Besta,\u201d, Milan, 20133, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurometabolic Disease Laboratory, Istituto Neurological \u201cC. Besta,\u201d, Milan, 20133, Italy","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073056364","display_name":"Stefano Di Donato","orcid":"https://orcid.org/0000-0003-2396-2061","observed_orcids":["https://orcid.org/0000-0003-2396-2061"]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Stefano Di Donato","raw_affiliation_strings":["Neurometabolic Disease Laboratory, Istituto Neurological \u201cC. Besta,\u201d, Milan, 20133, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurometabolic Disease Laboratory, Istituto Neurological \u201cC. Besta,\u201d, Milan, 20133, Italy","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"last","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/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":"Jean-Marie Saudubray","raw_affiliation_strings":["Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinique et Unit\u00e9 de Recherche de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U12, H\u00f4pital des Enfants Malades, 149 Rue de S\u00e8vres, Paris, Cedex 15, 75743, France","institution_ids":["https://openalex.org/I154526488"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":5.2823,"has_fulltext":true,"cited_by_count":131,"citation_normalized_percentile":{"value":0.97111248,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"24","issue":"3","first_page":"308","last_page":"311"},"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/T13430","display_name":"Lipid metabolism and disorders","score":0.0,"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":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/carnitine-palmitoyltransferase-deficiency","display_name":"carnitine palmitoyltransferase deficiency","score":0.9559999704360962},{"id":"https://openalex.org/keywords/long-chain-fatty-acid-oxidation","display_name":"long-chain fatty acid oxidation","score":0.9269999861717224},{"id":"https://openalex.org/keywords/palmitate-oxidation","display_name":"palmitate oxidation","score":0.9039999842643738},{"id":"https://openalex.org/keywords/hepatic-presentation","display_name":"hepatic presentation","score":0.7870000004768372},{"id":"https://openalex.org/keywords/clinical-variants","display_name":"clinical variants","score":0.5090000033378601},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.4169999957084656}],"concepts":[{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.8437952995300293},{"id":"https://openalex.org/C82714985","wikidata":"https://www.wikidata.org/wiki/Q306213","display_name":"Beta oxidation","level":3,"score":0.7656318545341492},{"id":"https://openalex.org/C2776423169","wikidata":"https://www.wikidata.org/wiki/Q412898","display_name":"Carnitine O-palmitoyltransferase","level":4,"score":0.7628421783447266},{"id":"https://openalex.org/C2776376580","wikidata":"https://www.wikidata.org/wiki/Q407355","display_name":"Transferase","level":3,"score":0.6137700080871582},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5447015762329102},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.542165994644165},{"id":"https://openalex.org/C2780381497","wikidata":"https://www.wikidata.org/wiki/Q463418","display_name":"Fibroblast","level":3,"score":0.5183316469192505},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.4521203637123108},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44376474618911743},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38492387533187866},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3414229452610016},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33963704109191895},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2996622920036316},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.19381093978881836},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.16894260048866272},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1393452286720276},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.08077818155288696},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.07180279493331909}],"mesh":[{"descriptor_ui":"D000217","descriptor_name":"Acyltransferases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D002334","descriptor_name":"Carnitine O-Palmitoyltransferase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D002334","descriptor_name":"Carnitine O-Palmitoyltransferase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000201","qualifier_name":"enzymology","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":"D007527","descriptor_name":"Isoenzymes","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D007527","descriptor_name":"Isoenzymes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007700","descriptor_name":"Kinetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1203/00006450-198809000-00006","doi":"https://doi.org/10.1203/00006450-198809000-00006","is_oa":false,"landing_page_url":"https://doi.org/10.1203/00006450-198809000-00006","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},{"id":"pmid:3211616","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3211616","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":"Pediatric research","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W3151840","https://openalex.org/W1491296468","https://openalex.org/W1495212988","https://openalex.org/W1775749144","https://openalex.org/W1979596595","https://openalex.org/W1986876315","https://openalex.org/W2064780798","https://openalex.org/W2093679232","https://openalex.org/W2178164598","https://openalex.org/W2214862998","https://openalex.org/W2562142175"],"related_works":["https://openalex.org/W2407986435","https://openalex.org/W1596095455","https://openalex.org/W2410167138","https://openalex.org/W2003743587","https://openalex.org/W2093679232","https://openalex.org/W2093081294","https://openalex.org/W2031432068","https://openalex.org/W1998232607","https://openalex.org/W1557009310","https://openalex.org/W4387916736"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
