dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Silvera-Ruiz, Silene M. |
dc.contributor.author | Arranz Amo, José Antonio |
dc.contributor.author | Häberle, Johannes |
dc.contributor.author | Angaroni, Celia J. |
dc.contributor.author | Bezard, Miriam |
dc.contributor.author | Guelbert, Norberto |
dc.date.accessioned | 2020-03-03T13:47:08Z |
dc.date.available | 2020-03-03T13:47:08Z |
dc.date.issued | 2019-08-19 |
dc.identifier.citation | Silvera-Ruiz SM, Arranz JA, Häberle J, Angaroni CJ, Bezard M, Guelbert N, et al. Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings. Orphanet J Rare Dis. 2019 Aug 19;14:203. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/4697 |
dc.description | Defectes del cicle de la urea; Dèficit d’argininosuccinat sintetasa; Hiperammonèmia |
dc.description.sponsorship | This study was supported by grants from the Secretaría de Ciencia y Tecnología, Universidad Nacional de Córdoba and Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina. Work on urea cycle disorders in Zurich is supported by the Swiss National Science Foundation (grant no SNF 310030_153196 to JH). |
dc.language.iso | eng |
dc.publisher | Springer Nature |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;14 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Metabolisme, Errors congènits del |
dc.subject | Mètode longitudinal |
dc.subject.mesh | Urea Cycle Disorders, Inborn |
dc.subject.mesh | Cohort Studies |
dc.title | Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-019-1177-3 |
dc.subject.decs | trastornos congénitos del ciclo de la urea |
dc.subject.decs | estudios de cohortes |
dc.relation.publishversion | https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1177-3 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.authoraffiliation | [Silvera-Ruiz SM, Angaroni CJ, Bezard M] Centro de Estudio de las Metabolopatías Congénitas, Hospital de Niños de la Santísima Trinidad, Cátedra de Clínica Pediátrica, Fac. Cs. Médicas, UNC, Ferroviarios, Córdoba, Argentina. [Arranz JA] Unitat de Metabolopaties, Hospital Universitari Vall d'Hebron, Barcelona, Spain. [Häberle J] University Children's Hospital and Children's Research Center, Zurich, Switzerland. [Guelbert N] Sección Enfermedades Metabólicas, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina |
dc.identifier.pmid | 31426867 |
dc.identifier.wos | 000482910200001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |