{"id":"https://openalex.org/W3082530722","doi":"https://doi.org/10.3390/genes11091018","title":"Metabolic Serendipities of Expanded Newborn Screening","display_name":"Metabolic Serendipities of Expanded Newborn Screening","publication_year":2020,"publication_date":"2020-08-29","ids":{"openalex":"https://openalex.org/W3082530722","doi":"https://doi.org/10.3390/genes11091018","mag":"3082530722","pmid":"https://pubmed.ncbi.nlm.nih.gov/32872442"},"language":"en","primary_location":{"id":"doi:10.3390/genes11091018","doi":"https://doi.org/10.3390/genes11091018","is_oa":true,"landing_page_url":"https://doi.org/10.3390/genes11091018","pdf_url":null,"source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3390/genes11091018","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006696193","display_name":"Raquel Yahyaoui","orcid":"https://orcid.org/0000-0001-6789-1563","observed_orcids":["https://orcid.org/0000-0001-6789-1563"]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]},{"id":"https://openalex.org/I4210164724","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga","ror":"https://ror.org/05n3asa33","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210164724"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Raquel Yahyaoui","raw_affiliation_strings":["Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga-IBIMA, 29010 M\u00e1laga, Spain","Laboratory of Metabolic Disorders, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain"],"raw_orcid":"https://orcid.org/0000-0001-6789-1563","affiliations":[{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga-IBIMA, 29010 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210164724"]},{"raw_affiliation_string":"Laboratory of Metabolic Disorders, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210108548"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072403243","display_name":"Javier Blasco\u2010Alonso","orcid":"https://orcid.org/0000-0003-4008-3747","observed_orcids":["https://orcid.org/0000-0003-4008-3747"]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]},{"id":"https://openalex.org/I4210164724","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga","ror":"https://ror.org/05n3asa33","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210164724"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Javier Blasco-Alonso","raw_affiliation_strings":["Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga-IBIMA, 29010 M\u00e1laga, Spain","Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain"],"raw_orcid":"https://orcid.org/0000-0003-4008-3747","affiliations":[{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga-IBIMA, 29010 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210164724"]},{"raw_affiliation_string":"Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210108548"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048242256","display_name":"Montserrat Gonzalo\u2010Mar\u00edn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]},{"id":"https://openalex.org/I4210164724","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga","ror":"https://ror.org/05n3asa33","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210164724"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Montserrat Gonzalo-Mar\u00edn","raw_affiliation_strings":["Endocrinology and Nutrition Unit, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain","Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga-IBIMA, 29010 M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrinology and Nutrition Unit, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210108548"]},{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga-IBIMA, 29010 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210164724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086280271","display_name":"Carmen Benito","orcid":"https://orcid.org/0000-0001-5214-6237","observed_orcids":["https://orcid.org/0000-0001-5214-6237"]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Carmen Benito","raw_affiliation_strings":["Department of Genetics, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210108548"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075870120","display_name":"Juliana Serrano-Nieto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Juliana Serrano-Nieto","raw_affiliation_strings":["Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Regional Universitario de M\u00e1laga, 29011 M\u00e1laga, Spain","institution_ids":["https://openalex.org/I4210108548"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051276204","display_name":"Inmaculada Gonz\u00e1lez-Gallego","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210150677","display_name":"Hospital Universitario Virgen de la Arrixaca","ror":"https://ror.org/058thx797","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210150677"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Inmaculada Gonz\u00e1lez-Gallego","raw_affiliation_strings":["Unit of Metabolic Disorders, Centro de Bioqu\u00edmica y Gen\u00e9tica Cl\u00ednica, Hospital Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Metabolic Disorders, Centro de Bioqu\u00edmica y Gen\u00e9tica Cl\u00ednica, Hospital Universitario Virgen de la Arrixaca, 30120 Murcia, Spain","institution_ids":["https://openalex.org/I4210150677"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020609349","display_name":"Pedro Ruiz\u2010Sala","orcid":"https://orcid.org/0000-0003-1785-4988","observed_orcids":["https://orcid.org/0000-0003-1785-4988"]},"institutions":[{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Pedro Ruiz-Sala","raw_affiliation_strings":["Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, 28049 Madrid, Spain"],"raw_orcid":"https://orcid.org/0000-0003-1785-4988","affiliations":[{"raw_affiliation_string":"Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, 28049 Madrid, Spain","institution_ids":["https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001813953","display_name":"Bel\u00e9n P\u00e9rez","orcid":"https://orcid.org/0000-0002-3190-1958","observed_orcids":["https://orcid.org/0000-0002-3190-1958"]},"institutions":[{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Bel\u00e9n P\u00e9rez","raw_affiliation_strings":["Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, 28049 Madrid, Spain"],"raw_orcid":"https://orcid.org/0000-0002-3190-1958","affiliations":[{"raw_affiliation_string":"Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, 28049 Madrid, Spain","institution_ids":["https://openalex.org/I63634437"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032923173","display_name":"Domingo Gonz\u00e1lez\u2010Lamu\u00f1o","orcid":"https://orcid.org/0000-0002-7578-241X","observed_orcids":["https://orcid.org/0000-0002-7578-241X"]},"institutions":[{"id":"https://openalex.org/I13134134","display_name":"Universidad de Cantabria","ror":"https://ror.org/046ffzj20","country_code":"ES","type":"education","lineage":["https://openalex.org/I13134134"]},{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Domingo Gonz\u00e1lez-Lamu\u00f1o","raw_affiliation_strings":["Department of Pediatrics, University of Cantabria-University Hospital Marqu\u00e9s de Valdecilla, 39008 Santander, Spain"],"raw_orcid":"https://orcid.org/0000-0002-7578-241X","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Cantabria-University Hospital Marqu\u00e9s de Valdecilla, 39008 Santander, Spain","institution_ids":["https://openalex.org/I13134134","https://openalex.org/I4210099858"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5006696193"],"corresponding_institution_ids":["https://openalex.org/I4210108548","https://openalex.org/I4210164724"],"apc_list":{"value":1800,"currency":"CHF","value_usd":1901},"apc_paid":{"value":1800,"currency":"CHF","value_usd":1901},"fwci":1.4488,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.79568906,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"11","issue":"9","first_page":"1018","last_page":"1018"},"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"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/T12068","display_name":"Neonatal Health and Biochemistry","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/newborn-screening","display_name":"newborn screening","score":0.7770000100135803},{"id":"https://openalex.org/keywords/incidental-finding","display_name":"incidental finding","score":0.9900000095367432},{"id":"https://openalex.org/keywords/metabolic-disorders","display_name":"metabolic disorders","score":0.6399999856948853},{"id":"https://openalex.org/keywords/arginase-1-deficiency","display_name":"arginase 1 deficiency","score":0.9639999866485596},{"id":"https://openalex.org/keywords/glutaric-aciduria-type-i","display_name":"glutaric aciduria type I","score":0.9589999914169312},{"id":"https://openalex.org/keywords/lysinuric-protein-intolerance","display_name":"lysinuric protein intolerance","score":0.9959999918937683},{"id":"https://openalex.org/keywords/citrulline","display_name":"citrulline","score":0.9409999847412109},{"id":"https://openalex.org/keywords/homocystinuria","display_name":"homocystinuria","score":0.9890000224113464},{"id":"https://openalex.org/keywords/vitamin-b12-status","display_name":"vitamin B12 status","score":0.8830000162124634},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.9259999990463257}],"concepts":[{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.887301504611969},{"id":"https://openalex.org/C2779375456","wikidata":"https://www.wikidata.org/wiki/Q994859","display_name":"Homocystinuria","level":4,"score":0.781616747379303},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6422216892242432},{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.5903484225273132},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5667921304702759},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.41523391008377075},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3253488540649414},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.2112250030040741},{"id":"https://openalex.org/C2780912031","wikidata":"https://www.wikidata.org/wiki/Q180341","display_name":"Methionine","level":3,"score":0.19377580285072327},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1770959496498108},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.17451506853103638},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.1702098250389099}],"mesh":[{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D002331","descriptor_name":"Carnitine","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"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":"D007231","descriptor_name":"Infant, Newborn","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":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D022124","descriptor_name":"Hyperammonemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D022124","descriptor_name":"Hyperammonemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D022124","descriptor_name":"Hyperammonemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D022124","descriptor_name":"Hyperammonemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D022124","descriptor_name":"Hyperammonemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D022124","descriptor_name":"Hyperammonemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D050770","descriptor_name":"Glutaryl-CoA Dehydrogenase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D059788","descriptor_name":"Dried Blood Spot Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059788","descriptor_name":"Dried Blood Spot Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059788","descriptor_name":"Dried Blood Spot Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":10,"locations":[{"id":"doi:10.3390/genes11091018","doi":"https://doi.org/10.3390/genes11091018","is_oa":true,"landing_page_url":"https://doi.org/10.3390/genes11091018","pdf_url":null,"source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},{"id":"pmid:32872442","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32872442","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":"Genes","raw_type":"Journal Article"},{"id":"pmh:oai:repositorio.uam.es:10486/708762","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10486/708762","pdf_url":"https://repositorio.uam.es/bitstream/10486/708762/1/8721894.pdf","source":{"id":"https://openalex.org/S4306400964","display_name":"Biblos-e Archivo (Universidad Aut\u00f3noma de Madrid)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I63634437","host_organization_name":"Universidad Aut\u00f3noma de Madrid","host_organization_lineage":["https://openalex.org/I63634437"],"host_organization_lineage_names":[],"type":"repository"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"research article"},{"id":"pmh:oai:www.repositoriosalud.es:10668/16188","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565434/pdf","pdf_url":"https://www.mdpi.com/2073-4425/11/9/1018/pdf?version=1599441873","source":{"id":"https://openalex.org/S4377196114","display_name":"RISalud Institutional Health Repository of Andaluc\u00eda","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"research article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7565434","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7565434","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genes (Basel)","raw_type":"Text"},{"id":"pmh:oai:digital.csic.es:10261/220311","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10261/220311","pdf_url":null,"source":{"id":"https://openalex.org/S4306400616","display_name":"DIGITAL.CSIC (Spanish National Research Council (CSIC))","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I134820265","host_organization_name":"Consejo Superior de Investigaciones Cient\u00edficas","host_organization_lineage":["https://openalex.org/I134820265"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":null},{"id":"pmh:oai:digital.csic.es:10261/237443","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10261/237443","pdf_url":null,"source":{"id":"https://openalex.org/S4306400616","display_name":"DIGITAL.CSIC (Spanish National Research Council (CSIC))","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I134820265","host_organization_name":"Consejo Superior de Investigaciones Cient\u00edficas","host_organization_lineage":["https://openalex.org/I134820265"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:oai:doaj.org/article:3add4ab81e1d46baa3cc8f95432354a1","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/3add4ab81e1d46baa3cc8f95432354a1","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genes, Vol 11, Iss 1018, p 1018 (2020)","raw_type":"article"},{"id":"pmh:oai:hispana.mcu.es:59543480","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10486/708762","pdf_url":null,"source":{"id":"https://openalex.org/S4377196108","display_name":"Hispana","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"research article"},{"id":"pmh:oai:repositorio.unican.es:10902/21890","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10902/21890","pdf_url":null,"source":{"id":"https://openalex.org/S4306400398","display_name":"UCrea (University of Cantabria)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I13134134","host_organization_name":"Universidad de Cantabria","host_organization_lineage":["https://openalex.org/I13134134"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genes (Basel)&#13;\\n. 2020 Aug 29;11(9):1018","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.3390/genes11091018","doi":"https://doi.org/10.3390/genes11091018","is_oa":true,"landing_page_url":"https://doi.org/10.3390/genes11091018","pdf_url":null,"source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.8100000023841858,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G4817586001","display_name":null,"funder_award_id":"PI19/01155","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"}],"funders":[{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W87694395","https://openalex.org/W1758307423","https://openalex.org/W1978594875","https://openalex.org/W1982920980","https://openalex.org/W1986561336","https://openalex.org/W2003789097","https://openalex.org/W2029198430","https://openalex.org/W2031145536","https://openalex.org/W2042344004","https://openalex.org/W2051978340","https://openalex.org/W2067995627","https://openalex.org/W2084051227","https://openalex.org/W2098686758","https://openalex.org/W2105083626","https://openalex.org/W2301321527","https://openalex.org/W2569820968","https://openalex.org/W2607656130","https://openalex.org/W2658418929","https://openalex.org/W2732538298","https://openalex.org/W2761097084","https://openalex.org/W2781803530","https://openalex.org/W2912147702","https://openalex.org/W2964554706","https://openalex.org/W2983853444","https://openalex.org/W2998525657","https://openalex.org/W3024856794","https://openalex.org/W6766758333","https://openalex.org/W6772579261"],"related_works":["https://openalex.org/W2217334610","https://openalex.org/W4385343090","https://openalex.org/W2980221778","https://openalex.org/W2062519088","https://openalex.org/W2061112730","https://openalex.org/W1559869836","https://openalex.org/W2325200543","https://openalex.org/W2060311698","https://openalex.org/W2980968964","https://openalex.org/W1973594590"],"abstract_inverted_index":{"Incidental":[0],"findings":[1,38,76],"on":[2,46,77,160],"newborn":[3],"screening":[4,14,29],"(NBS)":[5],"are":[6,9,22,50],"results":[7],"that":[8,35,73,94,133,171,189],"not":[10,40],"the":[11,28,47,78,84,92,106,120,140,161,175,196],"target":[12],"of":[13,27,55,64,86,91,148,158,178],"within":[15],"a":[16,25,102,126,135,146,167],"given":[17],"NBS":[18,56,65],"program,":[19],"but":[20,49],"rather":[21],"found":[23],"as":[24,115,155],"result":[26],"and":[30,58],"resulting":[31],"diagnostic":[32],"workup":[33],"for":[34],"target.":[36],"These":[37],"may":[39,59],"have":[41],"an":[42,52,116],"immediate":[43],"clinical":[44],"impact":[45],"newborn,":[48],"sometimes":[51],"additional":[53],"benefit":[54],"programs":[57],"be":[60],"considered":[61],"secondary":[62],"targets":[63],"programs.":[66],"This":[67],"work":[68],"describes":[69],"four":[70],"case":[71,100,124,147,165],"reports":[72],"had":[74],"incidental":[75],"NBS,":[79],"which":[80,112,153],"eventually":[81],"led":[82],"to":[83],"diagnosis":[85,194],"another":[87],"metabolic":[88],"disease":[89],"instead":[90],"one":[93],"was":[95,101,113,125,145,166,172],"initially":[96],"suspected.":[97],"The":[98,122,142,163],"first":[99],"new":[103,185],"defect":[104],"in":[105,119,139,195],"cationic":[107],"amino":[108],"acid":[109],"transporter-2":[110],"(CAT-2),":[111],"oriented":[114],"arginase-1":[117],"deficiency":[118,138],"newborn.":[121,141],"second":[123],"maternal":[127],"glutaric":[128],"aciduria":[129],"type":[130],"1":[131],"(GA-1)":[132],"mimicked":[134],"carnitine":[136],"transporter":[137],"third":[143],"report":[144],"lysinuric":[149],"protein":[150],"intolerance":[151],"(LPI),":[152],"appeared":[154],"high":[156],"levels":[157],"citrulline":[159],"NBS.":[162],"fourth":[164],"mother":[168],"with":[169],"homocystinuria":[170],"diagnosed":[173],"during":[174],"biochemical":[176],"study":[177],"vitamin":[179],"B12":[180],"status.":[181],"All":[182],"cases":[183],"provide":[184],"or":[186],"interesting":[187],"data":[188],"will":[190],"help":[191],"guide":[192],"differential":[193],"future.":[197]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":6}],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2025-10-10T00:00:00"}
