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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorPajares Garcia, Sonia
dc.contributor.authorArranz Amo, José Antonio
dc.contributor.authorOrmazabal, Aida
dc.contributor.authordel Toro Riera, Mireia
dc.contributor.authorGarcía‑Cazorla, Ángeles
dc.contributor.authorNavarro‑Sastre, Aleix
dc.contributor.authorCarnicer Cáceres, Clara
dc.date.accessioned2022-01-13T13:24:14Z
dc.date.available2022-01-13T13:24:14Z
dc.date.issued2021-04-30
dc.identifier.citationPajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A, et al. Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns. Orphanet J Rare Dis. 2021 Apr 30;16:195.
dc.identifier.issn1750-1172
dc.identifier.urihttps://hdl.handle.net/11351/6783
dc.descriptionHomocisteïna; Cribratge de nounats; Deficiència de vitamina B12
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;16
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectInfants nadons
dc.subjectMetabolisme, Errors congènits del
dc.subjectAminoàcids - Metabolisme - Trastorns
dc.subject.meshInfant, Newborn
dc.subject.meshPropionic Acidemia
dc.subject.meshCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.titleImplementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-021-01784-7
dc.subject.decsrecién nacido
dc.subject.decsacidemia propiónica
dc.subject.decsenfermedades y anomalías neonatales congénitas y hereditarias
dc.relation.publishversionhttps://doi.org/10.1186/s13023-021-01784-7
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Pajares S] Sección de Errores Congénitos del Metabolismo IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic de Barcelona, 08028 Barcelona, Spain. Center for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain. [Arranz JA, Del Toro M, Carnicer C] Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Ormazabal A, García-Cazorla Á] Center for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain. Inborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain. [Navarro-Sastre A] Sección de Errores Congénitos del Metabolismo IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic de Barcelona, 08028 Barcelona, Spain
dc.identifier.pmid33931066
dc.identifier.wos000656314600003
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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