dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Pajares Garcia, Sonia |
dc.contributor.author | Arranz Amo, José Antonio |
dc.contributor.author | Ormazabal, Aida |
dc.contributor.author | del Toro Riera, Mireia |
dc.contributor.author | García‑Cazorla, Ángeles |
dc.contributor.author | Navarro‑Sastre, Aleix |
dc.contributor.author | Carnicer Cáceres, Clara |
dc.date.accessioned | 2022-01-13T13:24:14Z |
dc.date.available | 2022-01-13T13:24:14Z |
dc.date.issued | 2021-04-30 |
dc.identifier.citation | Pajares 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.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/6783 |
dc.description | Homocisteïna; Cribratge de nounats; Deficiència de vitamina B12 |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;16 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Infants nadons |
dc.subject | Metabolisme, Errors congènits del |
dc.subject | Aminoàcids - Metabolisme - Trastorns |
dc.subject.mesh | Infant, Newborn |
dc.subject.mesh | Propionic Acidemia |
dc.subject.mesh | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
dc.title | Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-021-01784-7 |
dc.subject.decs | recién nacido |
dc.subject.decs | acidemia propiónica |
dc.subject.decs | enfermedades y anomalías neonatales congénitas y hereditarias |
dc.relation.publishversion | https://doi.org/10.1186/s13023-021-01784-7 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut 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.pmid | 33931066 |
dc.identifier.wos | 000656314600003 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |