{"id":"https://openalex.org/W4398201044","doi":"https://doi.org/10.1016/j.cca.2024.119747","title":"Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency","display_name":"Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency","publication_year":2024,"publication_date":"2024-05-22","ids":{"openalex":"https://openalex.org/W4398201044","doi":"https://doi.org/10.1016/j.cca.2024.119747","pmid":"https://pubmed.ncbi.nlm.nih.gov/38788890"},"language":"en","primary_location":{"id":"doi:10.1016/j.cca.2024.119747","doi":"https://doi.org/10.1016/j.cca.2024.119747","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2024.119747","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","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":"Clinica Chimica Acta","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/A5071632847","display_name":"Andrew T. Nelson","orcid":"https://orcid.org/0000-0002-2591-0428","observed_orcids":["https://orcid.org/0000-0002-2591-0428"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew T. Nelson","raw_affiliation_strings":["Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Patricia M. Jones","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patricia M. Jones","raw_affiliation_strings":["Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States","Children's Health System, Dallas, TX, United States","Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States","institution_ids":["https://openalex.org/I867280407"]},{"raw_affiliation_string":"Children's Health System, Dallas, TX, United States","institution_ids":[]},{"raw_affiliation_string":"Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045761229","display_name":"Jing Cao","orcid":"https://orcid.org/0000-0002-3163-8897","observed_orcids":["https://orcid.org/0000-0002-3163-8897"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jing Cao","raw_affiliation_strings":["Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States. Electronic address: Jing.Cao2@UTSouthwestern.edu","Children's Health System, Dallas, TX, United States","Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States"],"raw_orcid":"https://orcid.org/0000-0002-3163-8897","affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States. Electronic address: Jing.Cao2@UTSouthwestern.edu","institution_ids":["https://openalex.org/I867280407"]},{"raw_affiliation_string":"Children's Health System, Dallas, TX, United States","institution_ids":[]},{"raw_affiliation_string":"Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States","institution_ids":["https://openalex.org/I867280407"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5045761229"],"corresponding_institution_ids":["https://openalex.org/I867280407"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":null,"fwci":0.2909,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.5153434,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"560","issue":null,"first_page":"119747","last_page":"119747"},"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/T13127","display_name":"Biotin and Related Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/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"}}],"keywords":[{"id":"https://openalex.org/keywords/holocarboxylase-synthetase-deficiency","display_name":"holocarboxylase synthetase deficiency","score":0.9900000095367432},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.6970000267028809},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.9150000214576721},{"id":"https://openalex.org/keywords/3-hydroxyisovaleric-acid","display_name":"3-hydroxyisovaleric acid","score":0.9819999933242798},{"id":"https://openalex.org/keywords/propionylcarnitine","display_name":"propionylcarnitine","score":0.7609999775886536},{"id":"https://openalex.org/keywords/urinary-organic-acids","display_name":"urinary organic acids","score":0.7120000123977661}],"concepts":[{"id":"https://openalex.org/C2778047097","wikidata":"https://www.wikidata.org/wiki/Q3031","display_name":"Girl","level":2,"score":0.6227710247039795},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4086505174636841},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.38911232352256775},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3869233727455139},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.35520678758621216},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.25332310795783997},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23754245042800903}],"mesh":[{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":true},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007223","descriptor_name":"Infant","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":"D028922","descriptor_name":"Holocarboxylase Synthetase Deficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D028922","descriptor_name":"Holocarboxylase Synthetase Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.cca.2024.119747","doi":"https://doi.org/10.1016/j.cca.2024.119747","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2024.119747","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","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":"Clinica Chimica Acta","raw_type":"journal-article"},{"id":"pmid:38788890","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38788890","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":"Clinica chimica acta; international journal of clinical chemistry","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W2107345961","https://openalex.org/W2323372135","https://openalex.org/W2512050137","https://openalex.org/W2735985091","https://openalex.org/W2917810434","https://openalex.org/W3173069965"],"related_works":["https://openalex.org/W2512050137","https://openalex.org/W2084619740","https://openalex.org/W63262992","https://openalex.org/W2002429225","https://openalex.org/W2017936165","https://openalex.org/W2320516111","https://openalex.org/W2083662868","https://openalex.org/W1530613860","https://openalex.org/W1995468068","https://openalex.org/W2033819103"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2024-05-23T00:00:00"}
