{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T21:04:17Z","timestamp":1792616657022,"version":"4.5.0"},"reference-count":14,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1016\/j.gim.2022.11.020","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T13:29:14Z","timestamp":1670246954000},"page":"100352","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":54,"title":["Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients"],"prefix":"10.1016","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3120-9320","authenticated-orcid":false,"given":"Christina Y.","family":"Miyake","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica J.","family":"Lay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Soler-Alfonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin E.","family":"Glinton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly M.","family":"Houck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Tosur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy E.","family":"Moran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara B.","family":"Stephens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor S.","family":"Howard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey J.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tam Dam","family":"Pham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santiago O.","family":"Valdes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaya N.","family":"Murali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maina","family":"Kava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deane","family":"Yim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheyenne","family":"Beach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Liberman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Janson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prince J.","family":"Kannankeril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Baxter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moriel","family":"Singer-Berk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel J.","family":"Mackenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Ghaloul-Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Pedroza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaine A.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saad A.","family":"Ehsan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahshid S.","family":"Azamian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.gim.2022.11.020_bib1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ajhg.2015.12.008","article-title":"Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations","volume":"98","author":"Lalani","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2022.11.020_bib2","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ajhg.2015.12.009","article-title":"Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy","volume":"98","author":"Kremer","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.gim.2022.11.020_bib3","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1002\/jimd.12149","article-title":"TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism","volume":"42","author":"Jennions","year":"2019","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"2","key":"10.1016\/j.gim.2022.11.020_bib4","first-page":"426","article-title":"The phenotype associated with variants in TANGO2 may be explained by a dual role of the\u00a0protein in ER-to-Golgi transport and at the mitochondria","volume":"44","author":"Milev","year":"2021","journal-title":"J\u00a0Inherit\u00a0Metab Dis"},{"issue":"2","key":"10.1016\/j.gim.2022.11.020_bib5","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/jimd.12156","article-title":"Clinical presentation and proteomic signature of patients with TANGO2 mutations","volume":"43","author":"Mingirulli","year":"2020","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.gim.2022.11.020_bib6","doi-asserted-by":"crossref","first-page":"3045","DOI":"10.1038\/s41598-022-07076-9","article-title":"Mitochondrial dysfunction associated with TANGO2 deficiency","volume":"12","author":"Heiman","year":"2022","journal-title":"Sci Rep"},{"issue":"2","key":"10.1016\/j.gim.2022.11.020_bib7","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/jimd.12314","article-title":"Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect","volume":"44","author":"B\u00e9rat","year":"2021","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.gim.2022.11.020_bib8","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/s41436-018-0137-y","article-title":"TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants","volume":"21","author":"Dines","year":"2019","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.gim.2022.11.020_bib9","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.arcped.2020.11.004","article-title":"Clinical phenotype associated with TANGO2 gene mutation","volume":"28","author":"Hoebeke","year":"2021","journal-title":"Arch Pediatr"},{"key":"10.1016\/j.gim.2022.11.020_bib10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.pediatrneurol.2021.02.011","article-title":"Symptom prevalence and genotype-phenotype correlations in patients with TANGO2-related metabolic encephalopathy and arrhythmias (TRMEA)","volume":"119","author":"Powell","year":"2021","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.gim.2022.11.020_bib11","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/ajmg.a.62543","article-title":"Variable clinical severity in TANGO2 deficiency: case series and literature review","volume":"188","author":"Schymick","year":"2022","journal-title":"Am J Med Genet A"},{"issue":"5","key":"10.1016\/j.gim.2022.11.020_bib12","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.hrcr.2020.01.007","article-title":"Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: a case report","volume":"6","author":"Scuotto","year":"2020","journal-title":"HeartRhythm Case Rep"},{"key":"10.1016\/j.gim.2022.11.020_bib13","unstructured":"Lalani S, Graham B, Burrage L, et\u00a0al. TANGO2-related metabolic encephalopathy and arrhythmias. In: Adam MP, Everman DB, Mirzaa GM, eds. GeneReviews [Internet]. University of Washington, Seattle; 1993-2022."},{"issue":"10","key":"10.1016\/j.gim.2022.11.020_bib14","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1016\/j.hrthm.2022.05.009","article-title":"Cardiac crises: cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises","volume":"19","author":"Miyake","year":"2022","journal-title":"Heart Rhythm"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022010577?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022010577?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:56:14Z","timestamp":1761098174000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360022010577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["S1098360022010577"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2022.11.020","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2022.11.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100352"}}