{"id":"https://openalex.org/W62463147","doi":"https://doi.org/10.1023/a:1005623028638","title":"Antenatal expression of multiple acyl\u2010CoA dehydrogenase deficiency","display_name":"Antenatal expression of multiple acyl\u2010CoA dehydrogenase deficiency","publication_year":2000,"publication_date":"2000-06-01","ids":{"openalex":"https://openalex.org/W62463147","doi":"https://doi.org/10.1023/a:1005623028638","mag":"62463147","pmid":"https://pubmed.ncbi.nlm.nih.gov/10896290"},"language":"en","primary_location":{"id":"doi:10.1023/a:1005623028638","doi":"https://doi.org/10.1023/a:1005623028638","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1005623028638","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":"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/A5076398153","display_name":"Christine Vianey\u2010Saban","orcid":"https://orcid.org/0000-0001-8477-3120","observed_orcids":["https://orcid.org/0000-0001-8477-3120"]},"institutions":[{"id":"https://openalex.org/I4210119578","display_name":"H\u00f4pital Debrousse","ror":"https://ror.org/02cc58y38","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210119578"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Vianey\u2010Saban","raw_affiliation_strings":["Service de Biochimie P\u00e9diatrique H\u00f4pital Debrousse  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Biochimie P\u00e9diatrique H\u00f4pital Debrousse  Lyon France","institution_ids":["https://openalex.org/I4210119578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057389723","display_name":"Raymonde Bouvier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123600","display_name":"H\u00f4pital Edouard Herriot","ror":"https://ror.org/02qt1p572","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596","https://openalex.org/I4210123600"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"R. Bouvier","raw_affiliation_strings":["Laboratoire Central d'Anatomie Pathologique H\u00f4pital Edouard Herriot  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire Central d'Anatomie Pathologique H\u00f4pital Edouard Herriot  Lyon France","institution_ids":["https://openalex.org/I4210123600"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043841949","display_name":"Pierre Cochat","orcid":"https://orcid.org/0000-0003-2131-858X","observed_orcids":["https://orcid.org/0000-0003-2131-858X"]},"institutions":[{"id":"https://openalex.org/I4210123600","display_name":"H\u00f4pital Edouard Herriot","ror":"https://ror.org/02qt1p572","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596","https://openalex.org/I4210123600"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. Cochat","raw_affiliation_strings":["Service de N\u00e9phrologie P\u00e9diatrique H\u00f4pital Edouard Herriot  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de N\u00e9phrologie P\u00e9diatrique H\u00f4pital Edouard Herriot  Lyon France","institution_ids":["https://openalex.org/I4210123600"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078696990","display_name":"Annie Bu\u00e9nerd","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123600","display_name":"H\u00f4pital Edouard Herriot","ror":"https://ror.org/02qt1p572","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596","https://openalex.org/I4210123600"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Buenerd","raw_affiliation_strings":["Laboratoire Central d'Anatomie Pathologique H\u00f4pital Edouard Herriot  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire Central d'Anatomie Pathologique H\u00f4pital Edouard Herriot  Lyon France","institution_ids":["https://openalex.org/I4210123600"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040636028","display_name":"Priscille Divry","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119578","display_name":"H\u00f4pital Debrousse","ror":"https://ror.org/02cc58y38","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210119578"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. Divry","raw_affiliation_strings":["Service de Biochimie P\u00e9diatrique H\u00f4pital Debrousse  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Biochimie P\u00e9diatrique H\u00f4pital Debrousse  Lyon France","institution_ids":["https://openalex.org/I4210119578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113574377","display_name":"R. Dumoulin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119578","display_name":"H\u00f4pital Debrousse","ror":"https://ror.org/02cc58y38","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210119578"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"R. Dumoulin","raw_affiliation_strings":["Service de Biochimie P\u00e9diatrique H\u00f4pital Debrousse  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Biochimie P\u00e9diatrique H\u00f4pital Debrousse  Lyon France","institution_ids":["https://openalex.org/I4210119578"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110248880","display_name":"Marie\u2010Pierre Cordier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123600","display_name":"H\u00f4pital Edouard Herriot","ror":"https://ror.org/02qt1p572","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596","https://openalex.org/I4210123600"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. P. Cordier","raw_affiliation_strings":["Service de G\u00e9n\u00e9tique H\u00f4pital Edouard Herriot  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de G\u00e9n\u00e9tique H\u00f4pital Edouard Herriot  Lyon France","institution_ids":["https://openalex.org/I4210123600"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.00864816,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"23","issue":"4","first_page":"345","last_page":"348"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/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/multiple-acyl-coa-dehydrogenase-deficiency","display_name":"multiple acyl-CoA dehydrogenase deficiency","score":0.9660000205039978},{"id":"https://openalex.org/keywords/acyl-coa-dehydrogenase","display_name":"acyl-CoA dehydrogenase","score":0.8500000238418579},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7829999923706055},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.7089999914169312},{"id":"https://openalex.org/keywords/fatty-acid-oxidation-disorders","display_name":"fatty acid oxidation disorders","score":0.5249999761581421}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.650336503982544},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.43777352571487427}],"mesh":[{"descriptor_ui":"D000587","descriptor_name":"Oxidoreductases Acting on CH-NH Group Donors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005227","descriptor_name":"Fatty Acids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005420","descriptor_name":"Flavoproteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005977","descriptor_name":"Glutarates","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007506","descriptor_name":"Iron-Sulfur Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008052","descriptor_name":"Lipid Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008052","descriptor_name":"Lipid Metabolism, Inborn Errors","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D008052","descriptor_name":"Lipid Metabolism, Inborn Errors","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009097","descriptor_name":"Multienzyme Complexes","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042964","descriptor_name":"Acyl-CoA Dehydrogenase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044927","descriptor_name":"Electron-Transferring Flavoproteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044944","descriptor_name":"Acyl-CoA Dehydrogenases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1023/a:1005623028638","doi":"https://doi.org/10.1023/a:1005623028638","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1005623028638","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:10896290","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10896290","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":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W2016750152","https://openalex.org/W2017272157","https://openalex.org/W2037003392","https://openalex.org/W2040390055","https://openalex.org/W2167735278"],"related_works":["https://openalex.org/W2011224341","https://openalex.org/W2551214292","https://openalex.org/W2888263418","https://openalex.org/W1967910380","https://openalex.org/W2416410352","https://openalex.org/W3206179217","https://openalex.org/W2795079008","https://openalex.org/W1988370886","https://openalex.org/W2066851298","https://openalex.org/W7162808731"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}