Please use this identifier to cite or link to this item:
https://accedacris.ulpgc.es/handle/10553/49397
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Pérez-Cerdá, C. | en_US |
dc.contributor.author | Merinero, B. | en_US |
dc.contributor.author | Martí, M. | en_US |
dc.contributor.author | Cabrera, J. C. | en_US |
dc.contributor.author | Peña, L. | en_US |
dc.contributor.author | García, M. J. | en_US |
dc.contributor.author | Gangoiti, J. | en_US |
dc.contributor.author | Sanz, P. | en_US |
dc.contributor.author | Rodríguez-Pombo, P. | en_US |
dc.contributor.author | Hoenicka, J. | en_US |
dc.contributor.author | Richard, E. | en_US |
dc.contributor.author | Muro, S. | en_US |
dc.contributor.author | Ugarte, M. | en_US |
dc.date.accessioned | 2018-11-24T07:01:56Z | - |
dc.date.available | 2018-11-24T07:01:56Z | - |
dc.date.issued | 1998 | en_US |
dc.identifier.issn | 0340-6199 | en_US |
dc.identifier.uri | https://accedacris.ulpgc.es/handle/10553/49397 | - |
dc.description.abstract | We 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.language | eng | en_US |
dc.relation.ispartof | European Journal of Pediatrics | en_US |
dc.source | European Journal of Pediatrics[ISSN 0340-6199],v. 157, p. 50-52 (Junio 1998) | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 320110 Pediatría | en_US |
dc.subject.other | Propionic acidaemia | en_US |
dc.subject.other | Basal ganglia | en_US |
dc.subject.other | PCC gene mutations | en_US |
dc.title | An unusual late-onset case of propionic acidaemia: Biochemical investigations, neuroradiological findings and mutation analysis | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1007/s004310050765 | en_US |
dc.identifier.scopus | 15144347965 | - |
dc.contributor.authorscopusid | 6603860348 | - |
dc.contributor.authorscopusid | 6602854012 | - |
dc.contributor.authorscopusid | 9436010100 | - |
dc.contributor.authorscopusid | 7202882368 | - |
dc.contributor.authorscopusid | 6603266503 | - |
dc.contributor.authorscopusid | 56480858800 | - |
dc.contributor.authorscopusid | 57086744000 | - |
dc.contributor.authorscopusid | 7102001734 | - |
dc.contributor.authorscopusid | 6602708464 | - |
dc.contributor.authorscopusid | 6602702530 | - |
dc.contributor.authorscopusid | 7005030069 | - |
dc.contributor.authorscopusid | 7005733865 | - |
dc.contributor.authorscopusid | 7005900322 | - |
dc.description.lastpage | 52 | en_US |
dc.description.firstpage | 50 | en_US |
dc.relation.volume | 157 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.description.numberofpages | 3 | en_US |
dc.utils.revision | Sí | en_US |
dc.date.coverdate | Junio 1998 | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.jcr | 1,05 | - |
dc.description.jcrq | Q2 | - |
dc.description.scie | SCIE | - |
item.fulltext | Sin texto completo | - |
item.grantfulltext | none | - |
crisitem.author.dept | GIR IUIBS: Nutrición | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Clínicas | - |
crisitem.author.orcid | 0000-0001-6052-5894 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Peña Quintana, Luis | - |
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