{"id":"https://openalex.org/W2109648000","doi":"https://doi.org/10.1136/bcr.02.2009.1550","title":"Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival: Table 1","display_name":"Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival: Table 1","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W2109648000","doi":"https://doi.org/10.1136/bcr.02.2009.1550","mag":"2109648000","pmid":"https://pubmed.ncbi.nlm.nih.gov/21709843","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3027782"},"language":"en","primary_location":{"id":"doi:10.1136/bcr.02.2009.1550","doi":"https://doi.org/10.1136/bcr.02.2009.1550","is_oa":false,"landing_page_url":"https://doi.org/10.1136/bcr.02.2009.1550","pdf_url":null,"source":{"id":"https://openalex.org/S141953298","display_name":"BMJ Case Reports","issn_l":"1757-790X","issn":["1757-790X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMJ Case Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3027782","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103239452","display_name":"Petra C. E. Hissink Muller","orcid":"https://orcid.org/0000-0003-1610-8721","observed_orcids":["https://orcid.org/0000-0003-1610-8721"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Petra Hissink-Muller","raw_affiliation_strings":["Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046085286","display_name":"Enrico Lopriore","orcid":"https://orcid.org/0000-0002-3513-5066","observed_orcids":["https://orcid.org/0000-0002-3513-5066"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Enrico Lopriore","raw_affiliation_strings":["Leiden University Medical Center, Albinusdreef 2, Leiden, 9600 rc, The Netherlands","e.lopriore{at}lumc.nl"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leiden University Medical Center, Albinusdreef 2, Leiden, 9600 rc, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"e.lopriore{at}lumc.nl","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076213836","display_name":"Carolien C. A. Boelen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Carolien Boelen","raw_affiliation_strings":["Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110204966","display_name":"F. J. C. M. Klumper","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Frans Klumper","raw_affiliation_strings":["Leiden University Medical Center, Obstetrics and Gynecology, Albinusdreef 2, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leiden University Medical Center, Obstetrics and Gynecology, Albinusdreef 2, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113994826","display_name":"Marinus Dur\u00e1n","orcid":"https://orcid.org/0000-0002-6301-9732","observed_orcids":["https://orcid.org/0000-0002-6301-9732","https://orcid.org/0000-0002-3704-6390"]},"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":false,"raw_author_name":"Marinus Duran","raw_affiliation_strings":["Academic Medical Center Amsterdam, Laboratory of Genetic and Metabolic Diseases, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Center Amsterdam, Laboratory of Genetic and Metabolic Diseases, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012020338","display_name":"Frans J. Walther","orcid":"https://orcid.org/0000-0003-1931-159X","observed_orcids":["https://orcid.org/0000-0003-1931-159X","https://orcid.org/0000-0002-1395-1433"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Frans Walther","raw_affiliation_strings":["Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5046085286"],"corresponding_institution_ids":["https://openalex.org/I2800006345"],"apc_list":null,"apc_paid":null,"fwci":0.2007,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.53737542,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"2009","issue":null,"first_page":"bcr0220091550","last_page":"bcr0220091550"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/carnitine-palmitoyltransferase-ii-deficiency","display_name":"carnitine palmitoyltransferase II deficiency","score":0.984000027179718},{"id":"https://openalex.org/keywords/mitochondrial-fatty-acid-oxidation-disorders","display_name":"mitochondrial fatty acid oxidation disorders","score":0.7990000247955322},{"id":"https://openalex.org/keywords/long-chain-acylcarnitines","display_name":"long-chain acylcarnitines","score":0.9169999957084656},{"id":"https://openalex.org/keywords/prolonged-survival","display_name":"survival prolongation","score":0.5049999952316284},{"id":"https://openalex.org/keywords/cardiac-arrhythmia","display_name":"cardiac arrhythmias","score":0.8240000009536743},{"id":"https://openalex.org/keywords/infant-mortality","display_name":"infant mortality","score":0.5529999732971191},{"id":"https://openalex.org/keywords/treatment-failure","display_name":"treatment failure","score":0.5529999732971191}],"concepts":[{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.9087724685668945},{"id":"https://openalex.org/C2776423169","wikidata":"https://www.wikidata.org/wiki/Q412898","display_name":"Carnitine O-palmitoyltransferase","level":4,"score":0.7855289578437805},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7510136365890503},{"id":"https://openalex.org/C82714985","wikidata":"https://www.wikidata.org/wiki/Q306213","display_name":"Beta oxidation","level":3,"score":0.6591274738311768},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48497700691223145},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4659608006477356},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3678697645664215},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.33618593215942383},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.21972835063934326}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1136/bcr.02.2009.1550","doi":"https://doi.org/10.1136/bcr.02.2009.1550","is_oa":false,"landing_page_url":"https://doi.org/10.1136/bcr.02.2009.1550","pdf_url":null,"source":{"id":"https://openalex.org/S141953298","display_name":"BMJ Case Reports","issn_l":"1757-790X","issn":["1757-790X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMJ Case Reports","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3027782","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3027782","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMJ Case Rep","raw_type":"Text"},{"id":"pmid:21709843","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21709843","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":"BMJ case reports","raw_type":"Journal Article"},{"id":"pmh:oai:open-archive.highwire.org:casereports:2009/jun25_1/bcr0220091550","doi":null,"is_oa":false,"landing_page_url":"http://casereports.bmj.com/cgi/content/short/2009/jun25_1/bcr0220091550","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","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":"","raw_type":"TEXT"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3027782","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3027782","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMJ Case Rep","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W137818586","https://openalex.org/W1964871644","https://openalex.org/W2000014284","https://openalex.org/W2004272499","https://openalex.org/W2012866642","https://openalex.org/W2022414521","https://openalex.org/W2027037954","https://openalex.org/W2047412657","https://openalex.org/W2103866524","https://openalex.org/W2107442098","https://openalex.org/W2110793720","https://openalex.org/W2341162657"],"related_works":["https://openalex.org/W4394792565","https://openalex.org/W2612745288","https://openalex.org/W4238896160","https://openalex.org/W2341162657","https://openalex.org/W4210821248","https://openalex.org/W2047470294","https://openalex.org/W2136488532","https://openalex.org/W4312050635","https://openalex.org/W2103866524","https://openalex.org/W2004272499"],"abstract_inverted_index":{"Carnitine":[0],"palmitoyltransferase":[1],"(CPT)":[2],"deficiencies":[3],"are":[4],"disorders":[5],"of":[6,48,55,75,99,121],"mitochondrial":[7],"fatty":[8,13,17],"acid":[9,14],"oxidation":[10],"(FAO).":[11],"In":[12,32],"oxidation,":[15],"long-chain":[16,36,50],"acids":[18],"need":[19],"the":[20,27,30,62,65,69,79,109,115,119],"carnitine":[21,42],"cycle":[22],"to":[23,29,41,46,91,125],"be":[24,39],"transported":[25],"from":[26],"cytosol":[28],"mitochondria.":[31],"CPT":[33,56,76,104],"II":[34,57,77,105],"deficiency,":[35],"acylcarnitines":[37],"cannot":[38],"metabolised":[40],"and":[43,68,82],"acyl-CoA,":[44],"leading":[45],"accumulation":[47],"toxic":[49],"acylcarnitines.":[51],"Three":[52],"clinical":[53],"presentations":[54],"deficiency":[58,106],"have":[59],"been":[60],"identified:":[61],"adult":[63],"form,":[64],"infantile":[66],"form":[67,74],"neonatal":[70,73,103,110],"form.":[71],"The":[72,96],"is":[78,112],"most":[80],"severe":[81],"all":[83],"reported":[84],"patients":[85],"died":[86,117],"within":[87],"a":[88,100],"few":[89],"days":[90],"6":[92,122],"weeks":[93],"after":[94],"birth.":[95],"first":[97],"case":[98],"patient":[101],"with":[102],"surviving":[107],"beyond":[108],"period":[111],"described.":[113],"Unfortunately,":[114],"infant":[116],"at":[118],"age":[120],"months":[123],"due":[124],"untreatable":[126],"cardiac":[127],"arrhythmias.":[128]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}
