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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorVerdura, Edgard
dc.contributor.authorRodriguez-Palmero Seuma, Agusti
dc.contributor.authorVélez Santamaria, Valentina
dc.contributor.authorPlanas Serra, Laura
dc.contributor.authorde la Calle, Irene
dc.contributor.authorRaspall Chaure, Miquel
dc.date.accessioned2022-06-13T13:29:41Z
dc.date.available2022-06-13T13:29:41Z
dc.date.issued2021-09
dc.identifier.citationVerdura 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.issn1460-2156
dc.identifier.urihttps://hdl.handle.net/11351/7675
dc.descriptionLeucodistrofia hipomielinizante; Errores innatos del metabolismo; Fosfoinositol
dc.language.isoeng
dc.publisherOxford University Press
dc.relation.ispartofseriesBrain;144(9)
dc.rightsAttribution-NonCommercial 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceScientia
dc.subjectPediatria
dc.subjectSistema nerviós - Malalties - Aspectes genètics
dc.subjectMielina - Malalties - Aspectes genètics
dc.subject.meshNeurodevelopmental Disorders
dc.subject.mesh/genetics
dc.subject.meshPediatrics
dc.subject.meshHereditary Central Nervous System Demyelinating Diseases
dc.titleBiallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1093/brain/awab124
dc.subject.decstrastornos del desarrollo neurológico
dc.subject.decs/genética
dc.subject.decspediatría
dc.subject.decsenfermedades desmielinizantes hereditarias del sistema nervioso central
dc.relation.publishversionhttps://doi.org/10.1093/brain/awab124
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut 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.pmid34415322
dc.identifier.wos000733722200027
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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