dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Verdura, Edgard |
dc.contributor.author | Rodriguez-Palmero Seuma, Agusti |
dc.contributor.author | Vélez Santamaria, Valentina |
dc.contributor.author | Planas Serra, Laura |
dc.contributor.author | de la Calle, Irene |
dc.contributor.author | Raspall Chaure, Miquel |
dc.date.accessioned | 2022-06-13T13:29:41Z |
dc.date.available | 2022-06-13T13:29:41Z |
dc.date.issued | 2021-09 |
dc.identifier.citation | Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de La Calle I, Raspall-Chaure M, et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 Sep;144(9):2659–69. |
dc.identifier.issn | 1460-2156 |
dc.identifier.uri | https://hdl.handle.net/11351/7675 |
dc.description | Leucodistrofia hipomielinizante; Errores innatos del metabolismo; Fosfoinositol |
dc.language.iso | eng |
dc.publisher | Oxford University Press |
dc.relation.ispartofseries | Brain;144(9) |
dc.rights | Attribution-NonCommercial 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ |
dc.source | Scientia |
dc.subject | Pediatria |
dc.subject | Sistema nerviós - Malalties - Aspectes genètics |
dc.subject | Mielina - Malalties - Aspectes genètics |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Pediatrics |
dc.subject.mesh | Hereditary Central Nervous System Demyelinating Diseases |
dc.title | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1093/brain/awab124 |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | pediatría |
dc.subject.decs | enfermedades desmielinizantes hereditarias del sistema nervioso central |
dc.relation.publishversion | https://doi.org/10.1093/brain/awab124 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Verdura E, Planas-Serra L] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. [Rodríguez-Palmero A] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Catalonia, Spain. [Vélez-Santamaria V] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, Universitat de Barcelona, L’Hospitalet de Llobregat, Barcelona, Spain. [de la Calle I] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. [Raspall-Chaure M] Grup de Recerca en Neurologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 34415322 |
dc.identifier.wos | 000733722200027 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |