English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/40654
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

DC FieldValueLanguage
dc.contributor.authorMontero, Raquel-
dc.contributor.authorSánchez-Alcázar, José Antonio-
dc.contributor.authorGallardo, M. Esther-
dc.contributor.authorBornstein, Belén-
dc.contributor.authorRivera, Henry-
dc.contributor.authorMartín, Miguel A.-
dc.contributor.authorNavas, Plácido-
dc.contributor.authorArtuch, Rafael-
dc.date.accessioned2011-10-06T06:48:38Z-
dc.date.available2011-10-06T06:48:38Z-
dc.date.issued2008-12-03-
dc.identifier.citationClinical Biochemistry 42(7-8): 732-735 (2009)es_ES
dc.identifier.issn0009-9120-
dc.identifier.otherPMID: 19094978-
dc.identifier.urihttp://hdl.handle.net/10261/40654-
dc.description4 páginas, 1 figura, 1 tabla.-- et al.es_ES
dc.description.abstract[Objectives]: To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome. [Design and methods]: Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q10 (CoQ10) status and quantify mitochondrial DNA. [Results]: Decreased CoQ10 values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance. [Conclusions]: mtDNA depletion syndrome was associated with CoQ10 deficiency in our patient.es_ES
dc.description.sponsorshipThis project was supported by grants from the Instituto de Salud Carlos III (FIS:PI04–0009, PI07-0045, PI04-0567 and PI04-1351), Diputación General de Aragón (Grupos Consolidados B33) and European Union contract LSHB-CT-2004-005151. M.D.H-M. is supported by a predoctoral fellowship FIS (FI05/00501). The CIBER de Enfermedades Raras is an initiative of the ISCIII.es_ES
dc.language.isoenges_ES
dc.publisherElsevieres_ES
dc.rightsclosedAccesses_ES
dc.subjectMitocondrial DNA depletiones_ES
dc.subjectCoenzyme Q10 deficiencyes_ES
dc.subjectPediatric patientses_ES
dc.subjectMitochondrial respiratory chaines_ES
dc.subjectUbiquinonees_ES
dc.titleCoenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case reportes_ES
dc.typeartículoes_ES
dc.identifier.doi10.1016/j.clinbiochem.2008.10.027-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttp://dx.doi.org/10.1016/j.clinbiochem.2008.10.027es_ES
Appears in Collections:(CABD) Artículos
(IIBM) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show simple item record
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.