{"id":"https://openalex.org/W2157686899","doi":"https://doi.org/10.1002/ajmg.a.32298","title":"Peroxisomal acyl\u2010CoA\u2010oxidase deficiency: Two new cases","display_name":"Peroxisomal acyl\u2010CoA\u2010oxidase deficiency: Two new cases","publication_year":2008,"publication_date":"2008-06-05","ids":{"openalex":"https://openalex.org/W2157686899","doi":"https://doi.org/10.1002/ajmg.a.32298","mag":"2157686899","pmid":"https://pubmed.ncbi.nlm.nih.gov/18536048"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.32298","doi":"https://doi.org/10.1002/ajmg.a.32298","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.32298","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"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-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","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/A5029377107","display_name":"Rosalba Carrozzo","orcid":"https://orcid.org/0000-0002-3327-4054","observed_orcids":["https://orcid.org/0000-0002-3327-4054"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Rosalba Carrozzo","raw_affiliation_strings":["Unit of Molecular Medicine, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Molecular Medicine, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031353133","display_name":"Carlo Bellini","orcid":"https://orcid.org/0000-0002-4199-7412","observed_orcids":["https://orcid.org/0000-0002-4199-7412"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carlo Bellini","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069780014","display_name":"Simona Lucioli","orcid":"https://orcid.org/0000-0002-7267-937X","observed_orcids":["https://orcid.org/0000-0002-7267-937X"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Simona Lucioli","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065871384","display_name":"Federica Deodato","orcid":"https://orcid.org/0000-0002-1914-6048","observed_orcids":["https://orcid.org/0000-0002-1914-6048"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4405269604","display_name":"Fondazione Bambino Ges\u00f9","ror":"https://ror.org/04pk2mc24","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4405269604"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Federica Deodato","raw_affiliation_strings":["Division of Metabolism, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","Division of Metabolism, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Metabolism, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]},{"raw_affiliation_string":"Division of Metabolism, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4405269604"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101762304","display_name":"Denise Cassandrini","orcid":"https://orcid.org/0000-0002-3556-8638","observed_orcids":["https://orcid.org/0000-0002-3556-8638"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Denise Cassandrini","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063430280","display_name":"Michela Cassanello","orcid":"https://orcid.org/0000-0002-0003-5479","observed_orcids":["https://orcid.org/0000-0002-0003-5479"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Michela Cassanello","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112528091","display_name":"Ubaldo Caruso","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ubaldo Caruso","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066947002","display_name":"Cristiano Rizzo","orcid":"https://orcid.org/0000-0002-5954-9749","observed_orcids":["https://orcid.org/0000-0002-5954-9749"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4405269604","display_name":"Fondazione Bambino Ges\u00f9","ror":"https://ror.org/04pk2mc24","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4405269604"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Cristiano Rizzo","raw_affiliation_strings":["Division of Metabolism, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","Division of Metabolism, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Metabolism, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]},{"raw_affiliation_string":"Division of Metabolism, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4405269604"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061382460","display_name":"Teresa Rizza","orcid":"https://orcid.org/0000-0003-4020-975X","observed_orcids":["https://orcid.org/0000-0003-4020-975X"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Teresa Rizza","raw_affiliation_strings":["Unit of Molecular Medicine, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","Unit of Molecular Medicine, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Molecular Medicine, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]},{"raw_affiliation_string":"Unit of Molecular Medicine, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Matteo L. Napolitano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Matteo L. Napolitano","raw_affiliation_strings":["Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040743356","display_name":"Ronald J. A. Wanders","orcid":"https://orcid.org/0000-0001-7818-1452","observed_orcids":["https://orcid.org/0000-0001-7818-1452"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Ronald J.A. Wanders","raw_affiliation_strings":["Laboratory Genetic Metabolic Diseases, University Hospital Amsterdam AMC, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Genetic Metabolic Diseases, University Hospital Amsterdam AMC, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113546592","display_name":"Cornelis Jakobs","orcid":"https://orcid.org/0009-0008-0640-3798","observed_orcids":["https://orcid.org/0009-0008-0640-3798"]},"institutions":[{"id":"https://openalex.org/I911458345","display_name":"Amsterdam UMC Location Vrije Universiteit Amsterdam","ror":"https://ror.org/00q6h8f30","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833","https://openalex.org/I911458345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Cornelis Jakobs","raw_affiliation_strings":["Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I911458345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103033200","display_name":"Claudio Bruno","orcid":"https://orcid.org/0000-0002-3426-2901","observed_orcids":["https://orcid.org/0000-0002-3426-2901"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Claudio Bruno","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068237948","display_name":"Filippo Maria Santorelli","orcid":"https://orcid.org/0000-0002-1359-9062","observed_orcids":["https://orcid.org/0000-0002-1359-9062"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Filippo M. Santorelli","raw_affiliation_strings":["Unit of Molecular Medicine, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","Unit of Molecular Medicine, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Molecular Medicine, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]},{"raw_affiliation_string":"Unit of Molecular Medicine, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087777712","display_name":"Carlo Dionisi\u2010Vici","orcid":"https://orcid.org/0000-0002-0007-3379","observed_orcids":["https://orcid.org/0000-0002-0007-3379"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4405269604","display_name":"Fondazione Bambino Ges\u00f9","ror":"https://ror.org/04pk2mc24","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4405269604"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carlo Dionisi\u2010Vici","raw_affiliation_strings":["Division of Metabolism, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","Division of Metabolism, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Metabolism, Bambino Gesu\u0300 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]},{"raw_affiliation_string":"Division of Metabolism, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4405269604"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077732294","display_name":"E Bonioli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Eugenio Bonioli","raw_affiliation_strings":["Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I83816512"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5040743356","https://openalex.org/A5077732294"],"corresponding_institution_ids":["https://openalex.org/I2801463291","https://openalex.org/I2802928900","https://openalex.org/I83816512"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.664,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.70611621,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"146A","issue":"13","first_page":"1676","last_page":"1681"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9994999766349792,"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":0.9994999766349792,"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/T13481","display_name":"Neurological diseases and metabolism","score":9.999999747378752e-05,"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"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/acox1","display_name":"ACOX1","score":0.9269999861717224},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.9340000152587891},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7369999885559082},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.9929999709129333},{"id":"https://openalex.org/keywords/psychomotor-delay","display_name":"psychomotor delay","score":0.9980000257492065},{"id":"https://openalex.org/keywords/homozygous-deletion","display_name":"homozygous deletion","score":0.7979999780654907},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9670000076293945},{"id":"https://openalex.org/keywords/phytanic-acid","display_name":"phytanic acid","score":0.6819999814033508},{"id":"https://openalex.org/keywords/bile-acid-intermediates","display_name":"bile acid intermediates","score":0.7490000128746033},{"id":"https://openalex.org/keywords/plasmalogens","display_name":"plasmalogens","score":0.8059999942779541}],"concepts":[{"id":"https://openalex.org/C2779611823","wikidata":"https://www.wikidata.org/wiki/Q421171","display_name":"Phytanic acid","level":4,"score":0.8855370283126831},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.8074887990951538},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.7395694255828857},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.6879480481147766},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5937302708625793},{"id":"https://openalex.org/C2779685201","wikidata":"https://www.wikidata.org/wiki/Q2699537","display_name":"Acyl-CoA","level":3,"score":0.5554366111755371},{"id":"https://openalex.org/C2777565452","wikidata":"https://www.wikidata.org/wiki/Q420599","display_name":"Plasmalogen","level":4,"score":0.552570104598999},{"id":"https://openalex.org/C2777485865","wikidata":"https://www.wikidata.org/wiki/Q189167","display_name":"Zellweger syndrome","level":4,"score":0.49206966161727905},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45315149426460266},{"id":"https://openalex.org/C38485361","wikidata":"https://www.wikidata.org/wiki/Q576379","display_name":"Oxidase test","level":3,"score":0.4526216983795166},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.41682958602905273},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4020348787307739},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3877229690551758},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3751445412635803},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36879679560661316},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21041005849838257},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18090641498565674},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.16128617525100708},{"id":"https://openalex.org/C41625074","wikidata":"https://www.wikidata.org/wiki/Q176088","display_name":"Membrane","level":2,"score":0.0},{"id":"https://openalex.org/C2778918659","wikidata":"https://www.wikidata.org/wiki/Q186915","display_name":"Phospholipid","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018901","descriptor_name":"Peroxisomal Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018901","descriptor_name":"Peroxisomal Disorders","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D018901","descriptor_name":"Peroxisomal Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020675","descriptor_name":"Peroxisomes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D042962","descriptor_name":"Acyl-CoA Oxidase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D042962","descriptor_name":"Acyl-CoA Oxidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":8,"locations":[{"id":"doi:10.1002/ajmg.a.32298","doi":"https://doi.org/10.1002/ajmg.a.32298","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.32298","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"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-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:18536048","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18536048","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":"American journal of medical genetics. Part A","raw_type":"Case Reports"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/58d9fb1b-ddeb-416c-8a34-2a4beac24955","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/58d9fb1b-ddeb-416c-8a34-2a4beac24955","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Carrozzo, R, Bellini, C, Lucioli, S, Deodato, F, Cassandrini, D, Cassanello, M, Caruso, U, Rizzo, C, Rizza, T, Napolitano, M L, Wanders, R J A, Jakobs, C, Bruno, C, Santorelli, F M, Dionisi-Vici, C, Bonioli, E & Alonisi-Vici, C 2008, 'Peroxisomal acyl-CoA-oxidase deficiency: two new cases', American journal of medical genetics. Part A, vol. 146A, no. 13, pp. 1676-1681. https://doi.org/10.1002/ajmg.a.32298","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/fe7ad764-c6a6-4185-9e0f-75dc2bbf3376","doi":null,"is_oa":false,"landing_page_url":"https://research.vumc.nl/en/publications/fe7ad764-c6a6-4185-9e0f-75dc2bbf3376","pdf_url":null,"source":{"id":"https://openalex.org/S7407055350","display_name":"Amsterdam UMC (VU Amsterdam) - Institutional Repository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Carrozzo, R, Bellini, C, Lucioli, S, Deodato, F, Cassandrini, D, Cassanello, M, Caruso, U, Rizzo, C, Rizza, T, Napolitano, M L, Wanders, R J A, Jakobs, C A J M, Bruno, C, Santorelli, F M, Alonisi-Vici, C & Bonioli, E 2008, 'Peroxisomal acyl-CoA-oxidase deficiency: two new cases', American Journal of Medical Genetics Part A, vol. 146A, no. 13, pp. 1676-1681. https://doi.org/10.1002/ajmg.a.32298","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/e62b6f97-dbc0-4fcf-bedf-e0b80f4e55cc","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/peroxisomal-acylcoaoxidase-deficiency-two-new-cases(e62b6f97-dbc0-4fcf-bedf-e0b80f4e55cc).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American journal of medical genetics. Part A, 146A(13), 1676 - 1681. Wiley-Liss Inc.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:iris.unige.it:11567/224960","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11567/224960","pdf_url":null,"source":{"id":"https://openalex.org/S4377196291","display_name":"CINECA IRIS Institutial Research Information System (University of Genoa)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I83816512","host_organization_name":"University of Genoa","host_organization_lineage":["https://openalex.org/I83816512"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:vu:oai:research.vu.nl:publications/524ba6c5-2996-45f1-9983-0004148e1cb8","doi":null,"is_oa":false,"landing_page_url":"https://research.vu.nl/en/publications/524ba6c5-2996-45f1-9983-0004148e1cb8","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics Part A, 146A(13), 1676 - 1681","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:vumc:oai:pure.atira.dk:publications/fe7ad764-c6a6-4185-9e0f-75dc2bbf3376","doi":null,"is_oa":false,"landing_page_url":"https://research.vumc.nl/en/publications/fe7ad764-c6a6-4185-9e0f-75dc2bbf3376","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics Part A, 146A(13), 1676 - 1681. Wiley-Liss Inc.","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1666654406","https://openalex.org/W1996044489","https://openalex.org/W1998930763","https://openalex.org/W2009192911","https://openalex.org/W2011687660","https://openalex.org/W2035190776","https://openalex.org/W2049635329","https://openalex.org/W2050227546","https://openalex.org/W2056431070","https://openalex.org/W2066851298","https://openalex.org/W2068648507","https://openalex.org/W2072066566","https://openalex.org/W2081030569","https://openalex.org/W2087229776","https://openalex.org/W2101641567","https://openalex.org/W2136674380","https://openalex.org/W2143020603","https://openalex.org/W2147536089","https://openalex.org/W2148246150","https://openalex.org/W2159409977","https://openalex.org/W2182549211"],"related_works":["https://openalex.org/W3108032753","https://openalex.org/W3203144357","https://openalex.org/W4391013912","https://openalex.org/W2060220451","https://openalex.org/W2072066566","https://openalex.org/W2049635329","https://openalex.org/W198586933","https://openalex.org/W2978764155","https://openalex.org/W2035190776","https://openalex.org/W1998930763"],"abstract_inverted_index":{"We":[0],"report":[1],"on":[2],"two":[3,60,69,113],"new":[4],"patients":[5,61],"with":[6],"straight-chain":[7,75],"acyl-coenzyme":[8],"A":[9],"oxidase":[10,77],"deficiency.":[11],"Early":[12],"onset":[13],"hypotonia,":[14],"seizures":[15],"and":[16,47,49,96,124],"psychomotor":[17],"delay":[18],"were":[19,28,53],"observed":[20],"in":[21,30,56,99,105],"both":[22,31],"cases.":[23],"Plasma":[24],"very-long-chain":[25],"fatty":[26],"acids":[27],"abnormal":[29],"patients,":[32],"whereas":[33],"the":[34,42,59,68,100,106],"plasma":[35],"levels":[36,52],"of":[37,65,67,82,93,127],"phytanic":[38],"acid,":[39,41],"pristanic":[40],"bile":[43],"acid":[44],"intermediates":[45],"DHCA":[46],"THCA,":[48],"erythrocyte":[50],"plasmalogen":[51],"normal.":[54],"Studies":[55],"fibroblasts":[57],"from":[58],"revealed":[62,109],"a":[63,85,90,117],"deficiency":[64],"one":[66],"peroxisomal":[70],"acyl-CoA":[71,76],"oxidases,":[72],"that":[73],"is,":[74],"(ACOX1).":[78],"Subsequent":[79],"molecular":[80],"analysis":[81,104],"ACOX1":[83],"showed":[84],"homozygous":[86],"deletion,":[87],"which":[88],"removes":[89],"large":[91],"part":[92],"intron":[94],"3":[95],"exons":[97],"4-14":[98],"first":[101],"patient.":[102],"Mutation":[103],"second":[107],"patient":[108],"compound":[110],"heterozygosity":[111],"for":[112],"mutations,":[114],"including:":[115],"(1)":[116],"c.692":[118],"G":[119],">":[120],"T":[121],"(p.G231V)":[122],"mutation":[123],"(2)":[125],"skipping":[126],"exon":[128],"13":[129],"(c.1729_1935del":[130],"(p.G577_E645del).":[131]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}