dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Boemer, François |
dc.contributor.author | Caberg, Jean‑Hubert |
dc.contributor.author | Beckers, Pablo |
dc.contributor.author | Dideberg, Vinciane |
dc.contributor.author | di Fiore, Samantha |
dc.contributor.author | Bours, Vincent |
dc.contributor.author | Blasco Perez, Laura |
dc.contributor.author | Tizzano Ferrari, Eduardo Fidel |
dc.date.accessioned | 2022-05-06T13:01:56Z |
dc.date.available | 2022-05-06T13:01:56Z |
dc.date.issued | 2021-10-07 |
dc.identifier.citation | Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Sci Rep. 2021 Oct 7;11:19922. |
dc.identifier.issn | 2045-2322 |
dc.identifier.uri | https://hdl.handle.net/11351/7494 |
dc.description | Malaltia de la neurona motora; Cribratge de població |
dc.description.sponsorship | This pilot study is supported by AveXis, Biogen, Roche, the ABMM (Association Belge contre les Maladies neuro-Musculaires), Minister's Office Alda GREOLI (Wallonia-Brussels Community) and donations from individuals. |
dc.language.iso | eng |
dc.publisher | Nature Research |
dc.relation.ispartofseries | Scientific Reports;11 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Atròfia muscular espinal - Tractament |
dc.subject | Cribatge (Medicina) |
dc.subject | Infants nadons |
dc.subject.mesh | Muscular Atrophy, Spinal |
dc.subject.mesh | /therapy |
dc.subject.mesh | Outcome and Process Assessment (Health Care) |
dc.subject.mesh | Neonatal Screening |
dc.title | Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1038/s41598-021-99496-2 |
dc.subject.decs | atrofia muscular espinal |
dc.subject.decs | /terapia |
dc.subject.decs | evaluación de resultados y procesos (atención a la salud) |
dc.subject.decs | cribado neonatal |
dc.relation.publishversion | https://doi.org/10.1038/s41598-021-99496-2 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Boemer F, Beckers P, di Fiore S] Biochemical Genetics Laboratory, Human Genetics, CHU Sart Tilman, University of Liège, B35, 4000 Liège, Belgium. [Caberg JH, Dideberg V] Molecular Genetics Lab, Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium. [Bours V] Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium. [Blasco-Perez L, Tizzano E] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 34620959 |
dc.identifier.wos | 000706376200025 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |