{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:38:59Z","timestamp":1787582339150,"version":"build-2736575974"},"reference-count":56,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,12,26]],"date-time":"2018-12-26T00:00:00Z","timestamp":1545782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["AZV 17\u201030965A"],"award-info":[{"award-number":["AZV 17\u201030965A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO VFN 64165"],"award-info":[{"award-number":["RVO VFN 64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["Progres Q26\/LF1"],"award-info":[{"award-number":["Progres Q26\/LF1"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["UNCE 204064"],"award-info":[{"award-number":["UNCE 204064"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001824","name":"Grantov\u00e1 Agentura \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["GACR 14\u201036804G"],"award-info":[{"award-number":["GACR 14\u201036804G"]}],"id":[{"id":"10.13039\/501100001824","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five children had sideroblastic anemia with increased numbers of ring sideroblasts &gt;15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6\u2010kb deletion in the <jats:italic>PUS1<\/jats:italic> gene, part of the six\u2010member family of pseudouridine synthases (pseudouridylases). Large homozygous deletions represent a novel cause of presumed <jats:italic>PUS1<\/jats:italic>\u2010loss\u2010of\u2010function phenotype. The other three children with SA had Pearson syndrome (PS) due to mtDNA deletions of 4 to 8\u00a0kb; two of these children showed early onset of PS and died due to repeated sepsis; the other child had later onset of PS and survived as the hematological parameters normalized and the disease transitioned to Kearns\u2013Sayre syndrome. In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, microcephaly, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A&gt;G (p.Asn204Asp) and c.674C&gt;T (p.Pro225Leu) in the <jats:italic>COX10<\/jats:italic> gene encoding the cytochrome <jats:italic>c<\/jats:italic> oxidase assembly factor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Sideroblastic anemia was found in fewer than 1.2% of patients with multisystem mitochondrial disease, and it was usually associated with an unfavorable prognosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.27591","type":"journal-article","created":{"date-parts":[[2018,12,27]],"date-time":"2018-12-27T05:33:16Z","timestamp":1545888796000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Sideroblastic anemia associated with multisystem mitochondrial disorders"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5141-2289","authenticated-orcid":false,"given":"Marketa","family":"Tesarova","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alzbeta","family":"Vondrackova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Stufkova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Veprekova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Stranecky","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamila","family":"Berankova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hansikova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Magner","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Galoova","sequence":"additional","affiliation":[{"name":"Department of Paediatric Oncology and Haematology Children's University Hospital, Kosice  Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Honzik","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Vodickova","sequence":"additional","affiliation":[{"name":"Department of Haematology Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Stary","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiri","family":"Zeman","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2014.04.008"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14215"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24637"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-08-439083"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/421530"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22244"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/10385"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_515"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-659854"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-05-719062"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000190572.68191.13"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm298"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951116001876"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(68)90561-4"},{"key":"e_1_2_9_17_1","first-page":"3","volume-title":"Mitochondria: A Practical Approach","author":"Rickwood D","year":"1987"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90055-8"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1994.1112"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20050807"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2008.02.001"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg284"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2006.07.008"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7710-y"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt321"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199908000-00005"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1327"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_470"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9778-4"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550325"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200051301"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chembiol.2006.09.009"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2013.05.014"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.984508"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045252"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2012.05.010"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2014.12.010"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/1567-1364.12141"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2012.01.003"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2015.02.006"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7494"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1358522"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0718"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20229"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1245"},{"key":"e_1_2_9_48_1","first-page":"1556","article-title":"COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood","volume":"70","author":"Pitceathly RD","year":"2013","journal-title":"JAMA Neurol"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.05463-11"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2014.05.014"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1997.52"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4614-4989-8_2"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1177\/1756285611434926"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00571.2013"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJNRD.S37887"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpba.2013.04.009"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12217"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.27591","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.27591","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T18:11:36Z","timestamp":1694715096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.27591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,26]]},"references-count":56,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,4]]}},"alternative-id":["10.1002\/pbc.27591"],"URL":"https:\/\/doi.org\/10.1002\/pbc.27591","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,26]]},"assertion":[{"value":"2018-08-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e27591"}}