{"id":"https://openalex.org/W3043826004","doi":"https://doi.org/10.1016/j.cca.2020.07.038","title":"Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies","display_name":"Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies","publication_year":2020,"publication_date":"2020-07-22","ids":{"openalex":"https://openalex.org/W3043826004","doi":"https://doi.org/10.1016/j.cca.2020.07.038","mag":"3043826004","pmid":"https://pubmed.ncbi.nlm.nih.gov/32710939"},"language":"en","primary_location":{"id":"doi:10.1016/j.cca.2020.07.038","doi":"https://doi.org/10.1016/j.cca.2020.07.038","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2020.07.038","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","is_traditional":true,"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/A5040563577","display_name":"Yiming Lin","orcid":"https://orcid.org/0000-0003-4657-2816","observed_orcids":["https://orcid.org/0000-0003-4657-2816"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yiming Lin","raw_affiliation_strings":["Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100426676","display_name":"Weifeng Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Weifeng Zhang","raw_affiliation_strings":["Department of Neonatal Intensive Care Unit, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neonatal Intensive Care Unit, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100677494","display_name":"Dongmei Chen","orcid":"https://orcid.org/0000-0001-6363-5802","observed_orcids":["https://orcid.org/0000-0001-6363-5802"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Dongmei Chen","raw_affiliation_strings":["Department of Neonatal Intensive Care Unit, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neonatal Intensive Care Unit, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101090026","display_name":"Chunmei Lin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chunmei Lin","raw_affiliation_strings":["Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101692378","display_name":"Zhenzhu Zheng","orcid":"https://orcid.org/0000-0002-4366-9957","observed_orcids":["https://orcid.org/0000-0002-4366-9957"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhenzhu Zheng","raw_affiliation_strings":["Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046165044","display_name":"Qingliu Fu","orcid":"https://orcid.org/0000-0002-8383-5235","observed_orcids":["https://orcid.org/0000-0002-8383-5235","https://orcid.org/0000-0001-6346-0256"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qingliu Fu","raw_affiliation_strings":["Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100400708","display_name":"Min Li","orcid":"https://orcid.org/0000-0001-8690-3451","observed_orcids":["https://orcid.org/0000-0001-8690-3451"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Min Li","raw_affiliation_strings":["Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, Zhejiang Province 310007, China. Electronic address: limin@biosan.cn","Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, Zhejiang Province 310007, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, Zhejiang Province 310007, China. Electronic address: limin@biosan.cn","institution_ids":[]},{"raw_affiliation_string":"Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, Zhejiang Province 310007, China","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"Weilin Peng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Weilin Peng","raw_affiliation_strings":["Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China. Electronic address: wellpeng@163.com","Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China. Electronic address: wellpeng@163.com","institution_ids":["https://openalex.org/I4405263561"]},{"raw_affiliation_string":"Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China","institution_ids":["https://openalex.org/I4405263561"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5100400708"],"corresponding_institution_ids":["https://openalex.org/I4405263561"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":null,"fwci":0.1651,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.37028394,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"510","issue":null,"first_page":"285","last_page":"290"},"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/short-chain-acyl-coa-dehydrogenase-deficiency","display_name":"short-chain acyl-CoA dehydrogenase deficiency","score":0.9769999980926514},{"id":"https://openalex.org/keywords/very-long-chain-acyl-coa-dehydrogenase-deficiency","display_name":"very long-chain acyl-CoA dehydrogenase deficiency","score":0.9850000143051147},{"id":"https://openalex.org/keywords/mitochondrial-fatty-acid-oxidation-disorders","display_name":"mitochondrial fatty acid oxidation disorders","score":0.8659999966621399},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.9760000109672546},{"id":"https://openalex.org/keywords/acads","display_name":"ACADS","score":0.7250000238418579},{"id":"https://openalex.org/keywords/acadvl","display_name":"ACADVL","score":0.9990000128746033},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6990000009536743},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.9940000176429749},{"id":"https://openalex.org/keywords/variant-pathogenicity-prediction","display_name":"variant pathogenicity prediction","score":0.7870000004768372},{"id":"https://openalex.org/keywords/ethylmalonic-acid","display_name":"ethylmalonic acid","score":0.7120000123977661},{"id":"https://openalex.org/keywords/prevalence","display_name":"prevalence","score":0.3619999885559082},{"id":"https://openalex.org/keywords/chinese-population","display_name":"Chinese population","score":0.609000027179718}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8518186807632446},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.817254900932312},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6501390933990479},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.601828932762146},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6004167199134827},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.5468435287475586},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.49372944235801697},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37800201773643494},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.33663809299468994},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000080984","descriptor_name":"Congenital Bone Marrow Failure Syndromes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008052","descriptor_name":"Lipid Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008052","descriptor_name":"Lipid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044942","descriptor_name":"Acyl-CoA Dehydrogenase, Long-Chain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.cca.2020.07.038","doi":"https://doi.org/10.1016/j.cca.2020.07.038","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2020.07.038","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:32710939","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32710939","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":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1997163590","https://openalex.org/W1998495214","https://openalex.org/W2003524901","https://openalex.org/W2048710380","https://openalex.org/W2048715905","https://openalex.org/W2051978340","https://openalex.org/W2052706429","https://openalex.org/W2063008368","https://openalex.org/W2085540039","https://openalex.org/W2096110724","https://openalex.org/W2110941799","https://openalex.org/W2119071616","https://openalex.org/W2197721327","https://openalex.org/W2373817779","https://openalex.org/W2521012767","https://openalex.org/W2569820968","https://openalex.org/W2586203201","https://openalex.org/W2803304886","https://openalex.org/W2804148443","https://openalex.org/W2890723161","https://openalex.org/W2894296217","https://openalex.org/W2899746866","https://openalex.org/W2913907150","https://openalex.org/W2942015598","https://openalex.org/W2964930753","https://openalex.org/W2990263626","https://openalex.org/W2990941635","https://openalex.org/W3013477219"],"related_works":["https://openalex.org/W4401499629","https://openalex.org/W4387395519","https://openalex.org/W2063008368","https://openalex.org/W7128474807","https://openalex.org/W4405830953","https://openalex.org/W2182985560","https://openalex.org/W2056690731","https://openalex.org/W4413444248","https://openalex.org/W4255519763","https://openalex.org/W6999970733"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2020-07-29T00:00:00"}
