{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T05:44:38Z","timestamp":1772516678839,"version":"3.50.1"},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:00:00Z","timestamp":1545264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"BC Children's Hospital Research Foundation"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1016\/j.ymgmr.2018.12.006","type":"journal-article","created":{"date-parts":[[2019,1,18]],"date-time":"2019-01-18T21:18:11Z","timestamp":1547846291000},"page":"32-38","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency"],"prefix":"10.1016","volume":"18","author":[{"given":"Delia","family":"Apatean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bojana","family":"Rakic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Brunel-Guitton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Glenda","family":"Hendson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renkui","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Sargent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal M.","family":"Lavoie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7061-6837","authenticated-orcid":false,"given":"Millan","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Stockler-Ipsiroglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.ymgmr.2018.12.006_bb0005","doi-asserted-by":"crossref","first-page":"2952","DOI":"10.1093\/hmg\/ddv058","article-title":"Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I","volume":"24","author":"Formosa","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"24","key":"10.1016\/j.ymgmr.2018.12.006_bb0010","doi-asserted-by":"crossref","first-page":"4837","DOI":"10.1093\/hmg\/ddq414","article-title":"FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy","volume":"19","author":"Fassone","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"16","key":"10.1016\/j.ymgmr.2018.12.006_bb0015","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1128\/MCB.00066-16","article-title":"A mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 results in cell-type-specific assembly defects in oxidative phosphorylation complexes I and II","volume":"36","author":"Zurita Rend\u00f3n","year":"2016","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ymgmr.2018.12.006_bb0020","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.redox.2015.07.016","article-title":"Complex I dysfunction underlies the glycolytic switch in pulmonary hypertensive smooth muscle cells","volume":"6","author":"Rafikov","year":"2015","journal-title":"Redox Biol."},{"issue":"2","key":"10.1016\/j.ymgmr.2018.12.006_bb0025","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1136\/jmedgenet-2011-100577","article-title":"Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes includingNDUFB9","volume":"49","author":"Haack","year":"2011","journal-title":"J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ymgmr.2018.12.006_bb0030","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1007\/s10545-005-4484-x","article-title":"Pulmonary hypertension\u2014a new manifestation of mitochondrial disease","volume":"28","author":"Barclay","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2018.12.006_bb0035","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2015.00123","article-title":"Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency","volume":"06","author":"Ahting","year":"2015","journal-title":"Front. Genet."},{"issue":"5","key":"10.1016\/j.ymgmr.2018.12.006_bb0040","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.ajhg.2011.10.005","article-title":"A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins","volume":"89","author":"Navarro-Sastre","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.ymgmr.2018.12.006_bb0045","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/gim.2015.148","article-title":"Clinical application of whole-exome sequencing across clinical indications","volume":"18","author":"Retterer","year":"2015","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.12.006_bb0050","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ajhg.2018.03.015","article-title":"Biallelic mutations in MRPS34 Lead to Instability of the small mitoribosomal subunit and leigh syndrome","volume":"102","author":"Lake","year":"2018","journal-title":"Am. J. Hum. Genet."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426918300909?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426918300909?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:50:05Z","timestamp":1762001405000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426918300909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":10,"alternative-id":["S2214426918300909"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2018.12.006","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2018.12.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}