{"id":"https://openalex.org/W4394792565","doi":"https://doi.org/10.1186/s13052-024-01632-x","title":"Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome","display_name":"Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome","publication_year":2024,"publication_date":"2024-04-14","ids":{"openalex":"https://openalex.org/W4394792565","doi":"https://doi.org/10.1186/s13052-024-01632-x","pmid":"https://pubmed.ncbi.nlm.nih.gov/38616285","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11017661"},"language":"en","primary_location":{"id":"doi:10.1186/s13052-024-01632-x","doi":"https://doi.org/10.1186/s13052-024-01632-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13052-024-01632-x","pdf_url":"https://ijponline.biomedcentral.com/counter/pdf/10.1186/s13052-024-01632-x","source":{"id":"https://openalex.org/S154273993","display_name":"The Italian Journal of Pediatrics/Italian journal of pediatrics","issn_l":"1720-8424","issn":["1720-8424","1824-7288"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Italian Journal of Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ijponline.biomedcentral.com/counter/pdf/10.1186/s13052-024-01632-x","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5039335029","display_name":"Gregorio Serra","orcid":"https://orcid.org/0000-0002-2918-9826","observed_orcids":["https://orcid.org/0000-0002-2918-9826"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Gregorio Serra","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy. gregorio.serra@unipa.it","Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":"https://orcid.org/0000-0002-2918-9826","affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy. gregorio.serra@unipa.it","institution_ids":["https://openalex.org/I900890020"]},{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078706113","display_name":"Vincenzo Antona","orcid":"https://orcid.org/0000-0001-7643-9560","observed_orcids":["https://orcid.org/0000-0001-7643-9560"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Vincenzo Antona","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014191430","display_name":"Vincenzo Insinga","orcid":"https://orcid.org/0009-0007-0376-7468","observed_orcids":["https://orcid.org/0009-0007-0376-7468"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Vincenzo Insinga","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007347653","display_name":"Giusy Morgante","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giusy Morgante","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079586015","display_name":"Alessia Vassallo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Alessia Vassallo","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008029260","display_name":"Simona La Placa","orcid":"https://orcid.org/0000-0003-4970-5194","observed_orcids":["https://orcid.org/0000-0003-4970-5194"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Simona La Placa","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063202480","display_name":"Ettore Piro","orcid":"https://orcid.org/0000-0003-4727-1628","observed_orcids":["https://orcid.org/0000-0003-4727-1628"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ettore Piro","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068574652","display_name":"Sergio Salerno","orcid":"https://orcid.org/0000-0003-1020-3437","observed_orcids":["https://orcid.org/0000-0003-1020-3437"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Sergio Salerno","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090915570","display_name":"Ingrid Anne Mandy Schierz","orcid":"https://orcid.org/0000-0001-7444-4948","observed_orcids":["https://orcid.org/0000-0001-7444-4948"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ingrid Anne Mandy Schierz","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037248904","display_name":"Eloisa Gitto","orcid":"https://orcid.org/0000-0001-7442-8630","observed_orcids":["https://orcid.org/0000-0001-7442-8630"]},"institutions":[{"id":"https://openalex.org/I112862951","display_name":"University of Messina","ror":"https://ror.org/05ctdxz19","country_code":"IT","type":"education","lineage":["https://openalex.org/I112862951"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Eloisa Gitto","raw_affiliation_strings":["Department of Human Pathology in Adult and Developmental Age \"Gaetano Barresi\", University of Messina, Messina, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Pathology in Adult and Developmental Age \"Gaetano Barresi\", University of Messina, Messina, Italy","institution_ids":["https://openalex.org/I112862951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090942103","display_name":"Mario Giuffr\u00e8","orcid":"https://orcid.org/0000-0001-9576-1635","observed_orcids":["https://orcid.org/0000-0001-9576-1635"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Mario Giuffr\u00e8","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017312703","display_name":"Giovanni Corsello","orcid":"https://orcid.org/0000-0002-0218-8110","observed_orcids":["https://orcid.org/0000-0002-0218-8110"]},"institutions":[{"id":"https://openalex.org/I900890020","display_name":"University of Palermo","ror":"https://ror.org/044k9ta02","country_code":"IT","type":"education","lineage":["https://openalex.org/I900890020"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giovanni Corsello","raw_affiliation_strings":["Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \"Giuseppe D'Alessandro\", University of Palermo, Palermo, Italy","institution_ids":["https://openalex.org/I900890020"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5039335029"],"corresponding_institution_ids":["https://openalex.org/I900890020"],"apc_list":{"value":2590,"currency":"USD","value_usd":2590},"apc_paid":{"value":2590,"currency":"USD","value_usd":2590},"fwci":1.5512,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.76377358,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"50","issue":"1","first_page":"67","last_page":"67"},"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare 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/cpt2","display_name":"CPT2","score":0.9739999771118164},{"id":"https://openalex.org/keywords/long-chain-acylcarnitines","display_name":"long-chain acylcarnitines","score":0.8339999914169312},{"id":"https://openalex.org/keywords/refractory-ventricular-tachycardia","display_name":"refractory ventricular tachycardia","score":0.8790000081062317},{"id":"https://openalex.org/keywords/cardiac-arrhythmia","display_name":"cardiac arrhythmias","score":0.8259999752044678},{"id":"https://openalex.org/keywords/multiple-organ-failure","display_name":"multiple organ failure","score":0.753000020980835},{"id":"https://openalex.org/keywords/neonatal-metabolic-screening","display_name":"neonatal metabolic screening","score":0.5299999713897705},{"id":"https://openalex.org/keywords/fatal-outcome","display_name":"fatal outcome","score":0.6449999809265137},{"id":"https://openalex.org/keywords/acylcarnitine-profile","display_name":"acylcarnitine profile","score":0.6779999732971191}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8318501710891724},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5073844790458679},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4461280107498169},{"id":"https://openalex.org/C2779246250","wikidata":"https://www.wikidata.org/wiki/Q1598200","display_name":"Metabolic acidosis","level":2,"score":0.4178255796432495},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.4177852272987366},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.4176163673400879},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.41460323333740234},{"id":"https://openalex.org/C2776917539","wikidata":"https://www.wikidata.org/wiki/Q1497481","display_name":"Failure to thrive","level":2,"score":0.41066765785217285},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.38911959528923035},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3750653862953186},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.10050597786903381},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D002334","descriptor_name":"Carnitine O-Palmitoyltransferase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D002334","descriptor_name":"Carnitine O-Palmitoyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005227","descriptor_name":"Fatty Acids","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":"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":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012802","descriptor_name":"Sicily","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s13052-024-01632-x","doi":"https://doi.org/10.1186/s13052-024-01632-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13052-024-01632-x","pdf_url":"https://ijponline.biomedcentral.com/counter/pdf/10.1186/s13052-024-01632-x","source":{"id":"https://openalex.org/S154273993","display_name":"The Italian Journal of Pediatrics/Italian journal of pediatrics","issn_l":"1720-8424","issn":["1720-8424","1824-7288"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Italian Journal of Pediatrics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11017661","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11017661","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11017661/pdf/13052_2024_Article_1632.pdf","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ital J Pediatr","raw_type":"Text"},{"id":"pmid:38616285","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38616285","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":"Italian journal of pediatrics","raw_type":"Case Reports"},{"id":"pmh:oai:iris.unipa.it:10447/634353","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/10447/634353","pdf_url":"https://iris.unipa.it/bitstream/10447/634353/2/CPTII.pdf","source":{"id":"https://openalex.org/S4377196289","display_name":"IRIS UniPA (University of Palermo)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I900890020","host_organization_name":"University of Palermo","host_organization_lineage":["https://openalex.org/I900890020"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:65719bfe5f5a4631adf2049d327c6e44","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/65719bfe5f5a4631adf2049d327c6e44","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":"Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-7 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13052-024-01632-x","doi":"https://doi.org/10.1186/s13052-024-01632-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13052-024-01632-x","pdf_url":"https://ijponline.biomedcentral.com/counter/pdf/10.1186/s13052-024-01632-x","source":{"id":"https://openalex.org/S154273993","display_name":"The Italian Journal of Pediatrics/Italian journal of pediatrics","issn_l":"1720-8424","issn":["1720-8424","1824-7288"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Italian Journal of Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4394792565.pdf","grobid_xml":"https://content.openalex.org/works/W4394792565.grobid-xml"},"referenced_works_count":51,"referenced_works":["https://openalex.org/W137818586","https://openalex.org/W1599464533","https://openalex.org/W1696622035","https://openalex.org/W1968628396","https://openalex.org/W1993137299","https://openalex.org/W2000014284","https://openalex.org/W2004272499","https://openalex.org/W2040568155","https://openalex.org/W2041885357","https://openalex.org/W2041911752","https://openalex.org/W2047412657","https://openalex.org/W2051978340","https://openalex.org/W2061366840","https://openalex.org/W2066885275","https://openalex.org/W2068414166","https://openalex.org/W2092652964","https://openalex.org/W2097080554","https://openalex.org/W2107442098","https://openalex.org/W2109648000","https://openalex.org/W2146769001","https://openalex.org/W2166838684","https://openalex.org/W2182396068","https://openalex.org/W2328326125","https://openalex.org/W2338102768","https://openalex.org/W2618145648","https://openalex.org/W2783882701","https://openalex.org/W2800171509","https://openalex.org/W3026254488","https://openalex.org/W3027212534","https://openalex.org/W3027940525","https://openalex.org/W3087192535","https://openalex.org/W3088081887","https://openalex.org/W3134316778","https://openalex.org/W3157788078","https://openalex.org/W3173932779","https://openalex.org/W3173985930","https://openalex.org/W3204624748","https://openalex.org/W4200427016","https://openalex.org/W4210672839","https://openalex.org/W4214835140","https://openalex.org/W4229034326","https://openalex.org/W4283576227","https://openalex.org/W4288702845","https://openalex.org/W4288704146","https://openalex.org/W4289837667","https://openalex.org/W4291189764","https://openalex.org/W4295088081","https://openalex.org/W4312050635","https://openalex.org/W4313274933","https://openalex.org/W4313331538","https://openalex.org/W4319766269"],"related_works":["https://openalex.org/W2136488532","https://openalex.org/W2341162657","https://openalex.org/W2103866524","https://openalex.org/W4312050635","https://openalex.org/W2109648000","https://openalex.org/W137818586","https://openalex.org/W2047470294","https://openalex.org/W2004272499","https://openalex.org/W2063659004","https://openalex.org/W4210821248"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Carnitine":[2],"palmitoyltransferase":[3],"II":[4,42,134,351,420],"(CPT":[5],"II)":[6],"deficiency":[7,135,421,428],"is":[8,26,66],"a":[9,77,89,307],"rare":[10,547],"inborn":[11],"error":[12],"of":[13,22,37,39,116,148,210,240,258,271,283,314,321,343,349,369,389,459,463,498,509,539,545,560],"mitochondrial":[14],"fatty":[15,308],"acid":[16,309],"metabolism":[17],"with":[18,246,306,440],"autosomal":[19],"recessive":[20],"pattern":[21],"inheritance.":[23],"Its":[24,448],"phenotype":[25],"highly":[27],"variable":[28],"(neonatal,":[29],"infantile,":[30],"and":[31,54,70,98,112,124,157,196,221,223,250,263,266,317,319,399,455,466,473,488,495,542,553],"adult":[32],"onset)":[33],"on":[34,88,406],"the":[35,40,67,72,132,228,255,259,272,278,295,300,324,332,344,360,370,377,382,386,397,401,418,479,507,510,517,528,537,540,558],"base":[36],"mutations":[38],"CPT":[41,133,350,419],"gene.":[43],"In":[44],"affected":[45,499],"subjects,":[46],"long-chain":[47],"acylcarnitines":[48,315,467],"cannot":[49],"be":[50,430,451],"subdivided":[51],"into":[52],"carnitine":[53],"acyl-CoA,":[55],"leading":[56,105],"to":[57,80,106,118,227,254,267,277,359,396,470,515,526],"their":[58,423],"toxic":[59],"accumulation":[60],"in":[61,422,432,457,468,478],"different":[62],"organs.":[63],"Neonatal":[64,229],"form":[65],"most":[68],"severe,":[69],"all":[71],"reported":[73],"patients":[74],"died":[75,290],"within":[76,385],"few":[78],"days":[79,292],"6":[81],"months":[82],"after":[83,521],"birth.":[84],"Hereby,":[85],"we":[86,374,394],"report":[87,535],"male":[90,140],"late-preterm":[91],"newborn":[92,213],"who":[93,363],"presented":[94],"refractory":[95],"cardiac":[96,264,435],"arrhythmias":[97],"acute":[99],"multiorgan":[100],"(hepatic,":[101,261],"renal,":[102],"muscular)":[103],"injury,":[104],"cerebral":[107],"hemorrhage,":[108],"hydrocephalus,":[109],"cardiovascular":[110],"failure":[111],"early":[113],"(day":[114],"5":[115],"life)":[117],"death.":[119],"Subsequently,":[120],"extended":[121,301,358,485],"metabolic":[122,302,486],"screening":[123,303],"target":[125,403],"next":[126,326],"generation":[127,327,502],"sequencing":[128,328,503],"(NGS)":[129,329,504],"analysis":[130,330,405],"allowed":[131],"diagnosis.":[136],"Case":[137],"presentation":[138],"The":[139],"proband":[141],"was":[142,166,170,224,275,384],"born":[143],"at":[144],"36+":[145],"4":[146],"weeks":[147],"gestation":[149],"by":[150,299],"spontaneous":[151],"vaginal":[152],"delivery.":[153],"Parents":[154],"were":[155,176,244,364],"healthy":[156],"nonconsanguineous,":[158],"although":[159],"both":[160],"coming":[161],"from":[162],"Nigeria.":[163],"Family":[164],"history":[165],"unremarkable.":[167],"Apgar":[168],"score":[169],"9/9.":[171],"At":[172],"birth,":[173,522],"anthropometric":[174],"measures":[175],"as":[177,366,476,523,525],"follows:":[178],"weight":[179],"2850":[180],"g":[181],"(47th":[182],"centile,":[183,192,203],"-0.07":[184],"standard":[185],"deviations,":[186],"SD),":[187],"length":[188],"50":[189],"cm":[190,201],"(81st":[191],"+":[193,204],"0.89":[194],"SD)":[195],"occipitofrontal":[197],"circumference":[198],"(OFC)":[199],"35":[200],"(87th":[202],"1.14":[205],"SD).":[206],"On":[207],"day":[208],"2":[209,291],"life":[211],"our":[212,284],"showed":[214],"bradycardia":[215],"(heart":[216],"rate":[217],"around":[218],"80":[219],"bpm)":[220],"hypotonia,":[222],"then":[225],"transferred":[226,276],"Intensive":[230],"Care":[231],"Unit":[232],"(NICU).":[233],"There,":[234],"he":[235,274,289],"subsequently":[236],"manifested":[237],"many":[238],"episodes":[239],"ventricular":[241],"tachycardia,":[242],"which":[243,410],"treated":[245],"pharmacological":[247],"(magnesium":[248],"sulfate)":[249],"electrical":[251],"cardioversion.":[252],"Due":[253],"critical":[256],"conditions":[257],"baby":[260],"renal":[262],"dysfunctions)":[265],"guarantee":[268],"optimal":[269],"management":[270,497],"arrythmias,":[273],"Pediatric":[279],"Cardiology":[280],"Reference":[281],"Center":[282],"region":[285],"(Sicily,":[286],"Italy),":[287],"where":[288],"later.":[293],"Thereafter,":[294],"carnitines":[296],"profile":[297],"evidenced":[298],"resulted":[304],"compatible":[305],"oxidation":[310],"defect":[311],"(increased":[312],"levels":[313,462],"C16":[316],"C18,":[318],"low":[320],"C2);":[322],"afterwards,":[323],"targeted":[325],"revealed":[331],"known":[333],"c.680":[334],"C":[335],">":[336],"T":[337],"p.":[338],"(Pro227Leu)":[339],"homozygous":[340],"missense":[341],"mutation":[342],"CPTII":[345,427,511],"gene,":[346],"for":[347,379,493,531,557],"diagnosis":[348,449,494,518],"deficiency.":[352],"Genetic":[353],"investigations":[354],"have":[355],"been,":[356],"then,":[357],"baby\u2019s":[361],"parents,":[362],"identified":[365],"heterozygous":[367],"carriers":[368],"same":[371],"variant.":[372],"When":[373],"meet":[375],"again":[376],"parents":[378],"genetic":[380,541],"counseling,":[381],"mother":[383],"first":[387],"trimester":[388],"her":[390],"second":[391,424],"pregnancy.":[392],"Therefore,":[393],"offered":[395],"couple":[398],"performed":[400],"prenatal":[402],"NGS":[404],"chorionic":[407],"villi":[408],"sample,":[409],"did":[411],"not":[412,439],"detect":[413],"any":[414],"alterations,":[415],"excluding":[416],"thus":[417],"child.":[425],"Conclusions":[426],"may":[429],"suspected":[431,454],"newborns":[433],"showing":[434],"arrhythmias,":[436],"associated":[437],"or":[438,520],"hypertrophic":[441],"cardiomyopathy,":[442],"polycystic":[443],"kidneys,":[444],"brain":[445],"malformations,":[446],"hepatomegaly.":[447],"should":[450],"even":[452],"more":[453],"investigated":[456],"cases":[458],"increased":[460],"plasmatic":[461],"creatine":[464],"phosphokinase":[465],"addition":[469],"kidney,":[471],"heart":[472],"liver":[474],"dysfunctions,":[475],"occurred":[477],"present":[480],"patient.":[481],"Accurate":[482],"family":[483,532],"history,":[484],"screening,":[487],"multidisciplinary":[489],"approach":[490],"are":[491],"necessary":[492],"adequate":[496],"subjects.":[500],"Next":[501],"techniques":[505],"allow":[506],"identification":[508],"gene":[512],"mutation,":[513],"essential":[514],"confirm":[516],"before":[519],"well":[524],"calculate":[527],"recurrence":[529],"risk":[530],"members.":[533],"Our":[534],"broads":[536],"knowledge":[538],"molecular":[543],"bases":[544],"such":[546],"disease,":[548],"improving":[549],"its":[550],"clinical":[551],"characterization,":[552],"provides":[554],"useful":[555],"indications":[556],"treatment":[559],"patients.":[561]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2024-04-14T00:00:00"}