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Leigh Syndrome Associated with TRMU Gene Mutations

dc.contributor.authorSala Coromina, Julia
dc.contributor.authorDougherty de Miguel, Lucia
dc.contributor.authorDe las Heras Montero, Javier Adolfo
dc.contributor.authorLasa Aranzasti, Amaia
dc.contributor.authorGarcía Arumí, Elena
dc.contributor.authorCarreño, Lidia
dc.contributor.authorArranz, José Antonio
dc.contributor.authorCarnicer, Clara
dc.contributor.authorUnceta Suárez, María
dc.contributor.authorSánchez Montañez, Ángel
dc.contributor.authorGort, Laura
dc.contributor.authorTort, Frederic
dc.contributor.authorDel Toro, Mireia
dc.date.accessioned2021-04-27T09:39:28Z
dc.date.available2021-04-27T09:39:28Z
dc.date.issued2021-03
dc.identifier.citationMolecular Genetics And Metabolism Reports 26 : (2021) // Article ID 100690es_ES
dc.identifier.issn2214-4269
dc.identifier.urihttp://hdl.handle.net/10810/51193
dc.description.abstracttRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU diseasees_ES
dc.description.sponsorshipThe Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), is an initiative of the Instituto de Salud Carlos III (Ministerio de Ciencia e Innovacion, Spain). This study was supported by the Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) (2014: SGR 393) and the CERCA Programme/Generalitat de Catalunya. The present study was supported by the Department de Salut, Generalitat de Catalunya (URDCAT project, SLT002/16/00174)es_ES
dc.language.isoenges_ES
dc.publisherElsevieres_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subjectTRMUes_ES
dc.subjectacute liver failurees_ES
dc.subjectLeigh syndromees_ES
dc.subjectmitochondrial diseasees_ES
dc.titleLeigh Syndrome Associated with TRMU Gene Mutationses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.holderhis is an open access article under the CC BY-NC-ND licensees_ES
dc.rights.holderAtribución-NoComercial-SinDerivadas 3.0 España*
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S2214426920301361?via%3Dihub#!es_ES
dc.identifier.doi10.1016/j.ymgmr.2020.100690
dc.departamentoesPediatríaes_ES
dc.departamentoeuPediatriaes_ES


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his is an open access article under the CC BY-NC-ND license
Except where otherwise noted, this item's license is described as his is an open access article under the CC BY-NC-ND license