{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T13:47:18Z","timestamp":1776001638151,"version":"3.50.1"},"reference-count":13,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,9,7]],"date-time":"2019-09-07T00:00:00Z","timestamp":1567814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.ymgmr.2019.100517","type":"journal-article","created":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T17:04:35Z","timestamp":1568653475000},"page":"100517","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up"],"prefix":"10.1016","volume":"21","author":[{"given":"Jeremy","family":"Woods","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Cederbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ymgmr.2019.100517_bb0005","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.1320550325","article-title":"Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome","volume":"55","author":"Inbal","year":"1995","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ymgmr.2019.100517_bb0010","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1086\/421530","article-title":"Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)","volume":"74","author":"Bykhovskaya","year":"2004","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.ymgmr.2019.100517_bb0015","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1002\/ajmg.a.36065","article-title":"A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations","volume":"161","author":"Shahni","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.ymgmr.2019.100517_bb0020","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ymgme.2014.06.004","article-title":"Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene","volume":"113","author":"Burrage","year":"2014","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgmr.2019.100517_bb0025","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1017\/S1355838299981591","article-title":"Cloning and characterization of a mammalian pseudouridine synthase","volume":"5","author":"Chen","year":"1999","journal-title":"RNA."},{"issue":"20","key":"10.1016\/j.ymgmr.2019.100517_bb0030","doi-asserted-by":"crossref","first-page":"19823","DOI":"10.1074\/jbc.M500216200","article-title":"Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation","volume":"280","author":"Patton","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.ymgmr.2019.100517_bb0040","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/ajmg.a.20368","article-title":"Mitochondrial myopathy and sideroblastic anemia","volume":"125A","author":"Casas","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.ymgmr.2019.100517_bb0045","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1136\/jmg.2006.045252","article-title":"Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)","volume":"44","author":"Fernandez-Vizarra","year":"2007","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2019.100517_bb0050","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10048-015-0465-x","article-title":"Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations","volume":"17","author":"Cao","year":"2016","journal-title":"neurogenetics."},{"issue":"6","key":"10.1016\/j.ymgmr.2019.100517_bb0055","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/ejhg.2014.192","article-title":"Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood","volume":"23","author":"Metodiev","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgmr.2019.100517_bb0060","first-page":"376","article-title":"Lactic acidosis, sideroblastic anemia (MLASA) case due to a novel PUS1 mutation","volume":"34","author":"Kasapkara","year":"2017","journal-title":"Turk. J. Haematol."},{"issue":"7616","key":"10.1016\/j.ymgmr.2019.100517_bb0065","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature."},{"key":"10.1016\/j.ymgmr.2019.100517_bb0070","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1146\/annurev.genet.39.110304.095751","article-title":"A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine","volume":"39","author":"Wallace","year":"2005","journal-title":"Annu. Rev. Genet."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426919301144?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426919301144?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:53:02Z","timestamp":1762001582000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426919301144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":13,"alternative-id":["S2214426919301144"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2019.100517","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2019.100517","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"}],"article-number":"100517"}}