Please use this identifier to cite or link to this item: https://accedacris.ulpgc.es/handle/10553/49397
DC FieldValueLanguage
dc.contributor.authorPérez-Cerdá, C.en_US
dc.contributor.authorMerinero, B.en_US
dc.contributor.authorMartí, M.en_US
dc.contributor.authorCabrera, J. C.en_US
dc.contributor.authorPeña, L.en_US
dc.contributor.authorGarcía, M. J.en_US
dc.contributor.authorGangoiti, J.en_US
dc.contributor.authorSanz, P.en_US
dc.contributor.authorRodríguez-Pombo, P.en_US
dc.contributor.authorHoenicka, J.en_US
dc.contributor.authorRichard, E.en_US
dc.contributor.authorMuro, S.en_US
dc.contributor.authorUgarte, M.en_US
dc.date.accessioned2018-11-24T07:01:56Z-
dc.date.available2018-11-24T07:01:56Z-
dc.date.issued1998en_US
dc.identifier.issn0340-6199en_US
dc.identifier.urihttps://accedacris.ulpgc.es/handle/10553/49397-
dc.description.abstractWe report a 5-year-old boy with propionic acidaemia who developed a rapidly fatal necrosis of the basal ganglia after an episode of clinical deterioration. Neither metabolic acidosis nor hyperammonaemia were present. Organic acid analysis in both urine and CSF showed increased levels of methylcitric and 3-hydroxypropionic acids. Propionic acidaemia was confirmed by demonstrating a propionyl-CoA carboxylase deficiency (11% of control value) in skin fibroblasts. DNA analysis revealed that the patient was a compound heterozygote for two mutations in the PCCB gene.en_US
dc.languageengen_US
dc.relation.ispartofEuropean Journal of Pediatricsen_US
dc.sourceEuropean Journal of Pediatrics[ISSN 0340-6199],v. 157, p. 50-52 (Junio 1998)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320110 Pediatríaen_US
dc.subject.otherPropionic acidaemiaen_US
dc.subject.otherBasal gangliaen_US
dc.subject.otherPCC gene mutationsen_US
dc.titleAn unusual late-onset case of propionic acidaemia: Biochemical investigations, neuroradiological findings and mutation analysisen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1007/s004310050765en_US
dc.identifier.scopus15144347965-
dc.contributor.authorscopusid6603860348-
dc.contributor.authorscopusid6602854012-
dc.contributor.authorscopusid9436010100-
dc.contributor.authorscopusid7202882368-
dc.contributor.authorscopusid6603266503-
dc.contributor.authorscopusid56480858800-
dc.contributor.authorscopusid57086744000-
dc.contributor.authorscopusid7102001734-
dc.contributor.authorscopusid6602708464-
dc.contributor.authorscopusid6602702530-
dc.contributor.authorscopusid7005030069-
dc.contributor.authorscopusid7005733865-
dc.contributor.authorscopusid7005900322-
dc.description.lastpage52en_US
dc.description.firstpage50en_US
dc.relation.volume157en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages3en_US
dc.utils.revisionen_US
dc.date.coverdateJunio 1998en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.jcr1,05-
dc.description.jcrqQ2-
dc.description.scieSCIE-
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.orcid0000-0001-6052-5894-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNamePeña Quintana, Luis-
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