{"id":"https://openalex.org/W3111815366","doi":"https://doi.org/10.1186/s43042-020-00121-0","title":"Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer","display_name":"Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer","publication_year":2020,"publication_date":"2020-12-01","ids":{"openalex":"https://openalex.org/W3111815366","doi":"https://doi.org/10.1186/s43042-020-00121-0","mag":"3111815366"},"language":"en","primary_location":{"id":"doi:10.1186/s43042-020-00121-0","doi":"https://doi.org/10.1186/s43042-020-00121-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s43042-020-00121-0","pdf_url":"https://jmhg.springeropen.com/track/pdf/10.1186/s43042-020-00121-0","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","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":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://jmhg.springeropen.com/track/pdf/10.1186/s43042-020-00121-0","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035846372","display_name":"Keechilat Pavithran","orcid":"https://orcid.org/0000-0002-6129-5709","observed_orcids":["https://orcid.org/0000-0002-6129-5709"]},"institutions":[{"id":"https://openalex.org/I1282879092","display_name":"Amrita Institute of Medical Sciences and Research Centre","ror":"https://ror.org/05ahcwz21","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I1282879092"]},{"id":"https://openalex.org/I81556334","display_name":"Amrita Vishwa Vidyapeetham","ror":"https://ror.org/03am10p12","country_code":"IN","type":"education","lineage":["https://openalex.org/I81556334"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Keechilat Pavithran","raw_affiliation_strings":["Department of Medical Oncology, Amrita Institute of Medical Science and Research center, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India"],"raw_orcid":"https://orcid.org/0000-0002-6129-5709","affiliations":[{"raw_affiliation_string":"Department of Medical Oncology, Amrita Institute of Medical Science and Research center, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India","institution_ids":["https://openalex.org/I1282879092","https://openalex.org/I81556334"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075166562","display_name":"Divya Pachat","orcid":"https://orcid.org/0000-0002-0059-3294","observed_orcids":["https://orcid.org/0000-0002-0059-3294"]},"institutions":[{"id":"https://openalex.org/I165915565","display_name":"Malabar Institute of Medical Sciences","ror":"https://ror.org/009fnyh39","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I165915565"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Divya Pachat","raw_affiliation_strings":["Department of Medical Genetics, Aster MIMS (Malabar Institute of Medical Sciences), Calicut, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Aster MIMS (Malabar Institute of Medical Sciences), Calicut, India","institution_ids":["https://openalex.org/I165915565"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013919492","display_name":"Dehannathparambil Kottarathil Vijaykumar","orcid":"https://orcid.org/0000-0002-3684-8834","observed_orcids":["https://orcid.org/0000-0002-3684-8834"]},"institutions":[{"id":"https://openalex.org/I1282879092","display_name":"Amrita Institute of Medical Sciences and Research Centre","ror":"https://ror.org/05ahcwz21","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I1282879092"]},{"id":"https://openalex.org/I81556334","display_name":"Amrita Vishwa Vidyapeetham","ror":"https://ror.org/03am10p12","country_code":"IN","type":"education","lineage":["https://openalex.org/I81556334"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Dehannathparambil Kottarathil Vijaykumar","raw_affiliation_strings":["Amrita Centre for Breast Diseases, Amrita Institute of Medical Science and Research Center, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Amrita Centre for Breast Diseases, Amrita Institute of Medical Science and Research Center, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India","institution_ids":["https://openalex.org/I1282879092","https://openalex.org/I81556334"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5035846372"],"corresponding_institution_ids":["https://openalex.org/I1282879092","https://openalex.org/I81556334"],"apc_list":{"value":0,"currency":"USD","value_usd":0},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"21","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12465","display_name":"Cancer, Lipids, and Metabolism","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/multiple-acyl-coa-dehydrogenase-deficiency","display_name":"multiple acyl-CoA dehydrogenase deficiency","score":0.9679999947547913},{"id":"https://openalex.org/keywords/breast-cancer","display_name":"breast cancer","score":0.7540000081062317},{"id":"https://openalex.org/keywords/fatty-acid-oxidation-disorders","display_name":"fatty acid oxidation disorders","score":0.8709999918937683},{"id":"https://openalex.org/keywords/chemotherapy-tolerance","display_name":"chemotherapy tolerance","score":0.5709999799728394},{"id":"https://openalex.org/keywords/surgical-complications","display_name":"surgical complications","score":0.5049999952316284},{"id":"https://openalex.org/keywords/gene-mutation-analysis","display_name":"gene mutation analysis","score":0.6460000276565552}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6697119474411011},{"id":"https://openalex.org/C2776694085","wikidata":"https://www.wikidata.org/wiki/Q974135","display_name":"Chemotherapy","level":2,"score":0.6531532406806946},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.6441332697868347},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.5651808381080627},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.56095951795578},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.536040186882019},{"id":"https://openalex.org/C2777735490","wikidata":"https://www.wikidata.org/wiki/Q2351083","display_name":"Metabolic disorder","level":2,"score":0.5251573920249939},{"id":"https://openalex.org/C82714985","wikidata":"https://www.wikidata.org/wiki/Q306213","display_name":"Beta oxidation","level":3,"score":0.447786420583725},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4365052282810211},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4143671691417694},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3625093698501587},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.33516359329223633},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1186/s43042-020-00121-0","doi":"https://doi.org/10.1186/s43042-020-00121-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s43042-020-00121-0","pdf_url":"https://jmhg.springeropen.com/track/pdf/10.1186/s43042-020-00121-0","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","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":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:4f98f0bf9dc14d78b3765e8bca41d9fd","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/4f98f0bf9dc14d78b3765e8bca41d9fd","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":"Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s43042-020-00121-0","doi":"https://doi.org/10.1186/s43042-020-00121-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s43042-020-00121-0","pdf_url":"https://jmhg.springeropen.com/track/pdf/10.1186/s43042-020-00121-0","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","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":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3111815366.pdf","grobid_xml":"https://content.openalex.org/works/W3111815366.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1541421641","https://openalex.org/W1964633920","https://openalex.org/W2077208518","https://openalex.org/W2079217126","https://openalex.org/W2096482492","https://openalex.org/W2123053428","https://openalex.org/W2581741508","https://openalex.org/W2888869593","https://openalex.org/W2891503058","https://openalex.org/W2966817324","https://openalex.org/W2996395406","https://openalex.org/W3043097005","https://openalex.org/W3206179217"],"related_works":["https://openalex.org/W4293688457","https://openalex.org/W3189487096","https://openalex.org/W2096482492","https://openalex.org/W2320030627","https://openalex.org/W2975117154","https://openalex.org/W4377246582","https://openalex.org/W3087052559","https://openalex.org/W4400369358","https://openalex.org/W4412555586","https://openalex.org/W3086701792"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Multiple":[2],"acyl-CoA":[3],"dehydrogenase":[4],"deficiency":[5],"(MAAD)":[6],"is":[7,38,51],"a":[8,65],"rare":[9],"metabolic":[10,107,125],"disorder":[11],"resulting":[12],"from":[13],"an":[14],"abnormality":[15],"in":[16,42,74,120],"fatty":[17],"acid":[18],"oxidation.":[19],"There":[20,37],"are":[21],"three":[22],"types":[23],"of":[24,45,64,82,97],"presentations:":[25],"neonatal":[26],"onset":[27],"with":[28,68,80],"or":[29,54],"without":[30,138],"congenital":[31],"anomalies":[32],"and":[33,109,115,130,136],"the":[34,43,49,61,75,83,95,132],"late-onset":[35,46,69],"type.":[36],"much":[39],"clinical":[40],"heterogeneity":[41],"presentation":[44,57],"variants;":[47],"hence,":[48],"diagnosis":[50,102],"often":[52],"delayed":[53],"missed.":[55],"Case":[56],"Here,":[58],"we":[59],"report":[60],"successful":[62],"management":[63],"41-year-old":[66],"female":[67],"MAAD":[70],"due":[71,123],"to":[72,124],"mutation":[73,111],"ETFDH":[76],"gene":[77,110],"who":[78],"presented":[79],"carcinoma":[81],"breast.":[84],"Chemotherapy":[85],"was":[86,103],"challenging":[87],"because":[88],"there":[89],"were":[90],"no":[91],"previous":[92],"reports":[93],"regarding":[94],"treatment":[96],"such":[98],"cases.":[99],"Conclusion":[100],"The":[101],"made":[104],"based":[105],"on":[106],"workup":[108],"analysis.":[112],"Unplanned":[113],"surgery":[114,135],"chemotherapy":[116,137],"can":[117],"be":[118],"fatal":[119],"these":[121],"patients":[122],"complications.":[126,140],"With":[127],"proper":[128],"precautions":[129],"monitoring,":[131],"patient":[133],"tolerated":[134],"any":[139]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2020-12-21T00:00:00"}