dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Domínguez-Gonzalez, C. |
dc.contributor.author | Díaz Marín, Carmen |
dc.contributor.author | Juntas Morales, Raul |
dc.contributor.author | Nascimiento‑Osorio, Andrés |
dc.contributor.author | Rivera‑Gallego, Alberto |
dc.contributor.author | Díaz-Manera, Jordi |
dc.date.accessioned | 2022-12-29T11:32:12Z |
dc.date.available | 2022-12-29T11:32:12Z |
dc.date.issued | 2022-11-05 |
dc.identifier.citation | Domínguez-González C, Díaz-Marín C, Juntas-Morales R, Nascimiento-Osorio A, Rivera-Gallego A, Díaz-Manera J. Survey on the management of Pompe disease in routine clinical practice in Spain. Orphanet J Rare Dis. 2022 Dec 5;17:426. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/8722 |
dc.description | Anticossos; Diagnòstic; Malaltia de pompe |
dc.description.sponsorship | Sanofi has sponsored this project without participating in the article’s design, data analysis, or writing. |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;17 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Enquestes |
dc.subject | Malalties congènites |
dc.subject | Anomalies cromosòmiques |
dc.subject | Malalties neuromusculars - Aspectes genètics |
dc.subject.mesh | Surveys and Questionnaires |
dc.subject.mesh | Mutation |
dc.subject.mesh | Genetic Diseases, Inborn |
dc.subject.mesh | Neuromuscular Diseases |
dc.subject.mesh | /genetics |
dc.title | Survey on the management of Pompe disease in routine clinical practice in Spain |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-022-02574-5 |
dc.subject.decs | encuestas y cuestionarios |
dc.subject.decs | mutación |
dc.subject.decs | enfermedades genéticas congénitas |
dc.subject.decs | enfermedades neuromusculares |
dc.subject.decs | /genética |
dc.relation.publishversion | https://doi.org/10.1186/s13023-022-02574-5 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Domínguez-González C] Neuromuscular Unit, Neurology Department, Hospital Universitario 12 de Octubre, imas12 Research Institute, Biomedical Network Research Center on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Díaz-Marín C] Neurology Department, Hospital General Universitario de Alicante Doctor Balmis, Instituto de Investigación Biosanitaria de Alicante (ISABIAL), Alicante, Spain. [Juntas-Morales R] Unitat de Trastorns Neuromusculars, Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Sistema Nerviós Perifèric, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Nascimiento-Osorio A] Neuromuscular Unit, Neurology Department, Hospital Sant Joan de Déu, Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Center for Biomedical Research Network On Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. [Rivera-Gallego A] Systemic Rare Diseases Unit, Department of Internal Medicine, Hospital Universitario Alvaro Cunqueiro, Vigo, Spain. [Díaz-Manera J] John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK. Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, Barcelona, Spain |
dc.identifier.pmid | 36471448 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |