{"id":"https://openalex.org/W3048313261","doi":"https://doi.org/10.1016/j.ejmg.2020.104032","title":"Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients","display_name":"Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients","publication_year":2020,"publication_date":"2020-08-07","ids":{"openalex":"https://openalex.org/W3048313261","doi":"https://doi.org/10.1016/j.ejmg.2020.104032","mag":"3048313261","pmid":"https://pubmed.ncbi.nlm.nih.gov/32777384"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmg.2020.104032","doi":"https://doi.org/10.1016/j.ejmg.2020.104032","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2020.104032","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Medical Genetics","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/A5018458251","display_name":"Berrak Bilginer G\u00fcrb\u00fcz","orcid":"https://orcid.org/0000-0002-6197-0647","observed_orcids":["https://orcid.org/0000-0002-6197-0647"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Berrak Bilginer G\u00fcrb\u00fcz","raw_affiliation_strings":["Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: berrakgurbuz@yahoo.com.tr","Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: berrakgurbuz@yahoo.com.tr","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101659007","display_name":"Didem Y\u00fccel Y\u0131lmaz","orcid":"https://orcid.org/0000-0002-8418-9204","observed_orcids":["https://orcid.org/0000-0002-8418-9204","https://orcid.org/0000-0002-1024-3685"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Didem Y\u00fccel Y\u0131lmaz","raw_affiliation_strings":["Hacettepe University Institute of Child Health, Division of Genetics, Ankara, Turkey. Electronic address: dyucel@hacettepe.edu.tr","Hacettepe University Institute of Child Health, Division of Genetics, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hacettepe University Institute of Child Health, Division of Genetics, Ankara, Turkey. Electronic address: dyucel@hacettepe.edu.tr","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Hacettepe University Institute of Child Health, Division of Genetics, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082027822","display_name":"Turgay Co\u015fkun","orcid":"https://orcid.org/0000-0001-9589-0445","observed_orcids":["https://orcid.org/0000-0001-9589-0445"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Turgay Co\u015fkun","raw_affiliation_strings":["Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: drturgaycoskun@gmail.com","Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: drturgaycoskun@gmail.com","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043256201","display_name":"Ay\u015feg\u00fcl Tokatl\u0131","orcid":"https://orcid.org/0000-0003-2812-9319","observed_orcids":["https://orcid.org/0000-0003-2812-9319"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u015feg\u00fcl Tokatl\u0131","raw_affiliation_strings":["Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: aysegul.tokatli@gmail.com","Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: aysegul.tokatli@gmail.com","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082552703","display_name":"Ali Dursun","orcid":"https://orcid.org/0000-0003-1104-9902","observed_orcids":["https://orcid.org/0000-0003-1104-9902"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ali Dursun","raw_affiliation_strings":["Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: adursun@hacettepe.edu.tr","Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: adursun@hacettepe.edu.tr","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028236098","display_name":"Sivri Hs","orcid":"https://orcid.org/0000-0001-8260-9984","observed_orcids":["https://orcid.org/0000-0001-8260-9984"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"H. Serap Sivri","raw_affiliation_strings":["Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: ssivri@hacettepe.edu.tr","Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address: ssivri@hacettepe.edu.tr","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5018458251"],"corresponding_institution_ids":["https://openalex.org/I66514158"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":1.3206,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.73434461,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"63","issue":"11","first_page":"104032","last_page":"104032"},"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/2716","display_name":"Genetics (clinical)"},"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/glutaric-aciduria-type-i","display_name":"glutaric aciduria type I","score":0.9990000128746033},{"id":"https://openalex.org/keywords/glutaryl-coa-dehydrogenase-deficiency","display_name":"glutaryl-CoA dehydrogenase deficiency","score":0.9570000171661377},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8040000200271606},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.9599999785423279},{"id":"https://openalex.org/keywords/variant-pathogenicity-prediction","display_name":"variant pathogenicity prediction","score":0.6850000023841858},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.9990000128746033},{"id":"https://openalex.org/keywords/turkish-patients","display_name":"Turkish patients","score":0.6320000290870667},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8450000286102295},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.9380000233650208}],"concepts":[{"id":"https://openalex.org/C2781083543","wikidata":"https://www.wikidata.org/wiki/Q635339","display_name":"Macrocephaly","level":2,"score":0.8065015077590942},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.515445351600647},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5152797698974609},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4982922077178955},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4754490554332733},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4587363004684448},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44092482328414917},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3287234604358673}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ejmg.2020.104032","doi":"https://doi.org/10.1016/j.ejmg.2020.104032","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2020.104032","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:32777384","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32777384","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":"European journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9789000153541565,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W826990566","https://openalex.org/W1522715708","https://openalex.org/W1597223461","https://openalex.org/W1965877738","https://openalex.org/W1967199176","https://openalex.org/W1969885276","https://openalex.org/W1971130319","https://openalex.org/W1994120446","https://openalex.org/W2022139353","https://openalex.org/W2026256617","https://openalex.org/W2030195348","https://openalex.org/W2038599206","https://openalex.org/W2042073026","https://openalex.org/W2044332231","https://openalex.org/W2058618176","https://openalex.org/W2059796825","https://openalex.org/W2062547323","https://openalex.org/W2067694285","https://openalex.org/W2073982113","https://openalex.org/W2084051227","https://openalex.org/W2091799425","https://openalex.org/W2112480941","https://openalex.org/W2123443649","https://openalex.org/W2154907781","https://openalex.org/W2182112122","https://openalex.org/W2592044115","https://openalex.org/W2597399835","https://openalex.org/W2599076725","https://openalex.org/W2604229769","https://openalex.org/W2800893837","https://openalex.org/W2956946829","https://openalex.org/W3014587700","https://openalex.org/W4294116629","https://openalex.org/W4391513956","https://openalex.org/W6631321881"],"related_works":["https://openalex.org/W7154991000","https://openalex.org/W2943737351","https://openalex.org/W7206156834","https://openalex.org/W3014587700","https://openalex.org/W4362657531","https://openalex.org/W7162695343","https://openalex.org/W2084051227","https://openalex.org/W2738050694","https://openalex.org/W3081865221","https://openalex.org/W2042073026"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2020-08-13T00:00:00"}
