Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/20346
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dc.contributor.authorSerrano, Mercedes
dc.contributor.authorde Diego, Víctor
dc.contributor.authorMuchart, Jordi
dc.contributor.authorCuadras, Daniel
dc.contributor.authorFelipe, Ana
dc.contributor.authorMacaya, Alfons
dc.contributor.authorVelázquez, Ramón
dc.contributor.authorPoo, M Pilar
dc.contributor.authorFons, Carmen
dc.contributor.authorO'Callaghan, M Mar
dc.contributor.authorGarcía-Cazorla, Angels
dc.contributor.authorBoix, Cristina
dc.contributor.authorRobles, Bernabé
dc.contributor.authorCarratalá, Francisco
dc.contributor.authorGirós, Marisa
dc.contributor.authorBriones, Paz
dc.contributor.authorGort, Laura
dc.contributor.authorArtuch, Rafael
dc.contributor.authorPérez-Cerdá, Celia
dc.contributor.authorJaeken, Jaak
dc.contributor.authorPérez, Belén
dc.contributor.authorPérez-Dueñas, Belén
dc.date.accessioned2019-06-28T12:54:04Z-
dc.date.available2019-06-28T12:54:04Z-
dc.date.issued2015-10-26
dc.identifier.citationOrphanet J Rare Dis.2015 Oct;(10):138
dc.identifier.urihttps://hdl.handle.net/20.500.12530/20346-
dc.description.abstractPhosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data.
dc.language.isoeng
dc.rightsopenAccess-
dc.subject.meshAdolescent
dc.subject.meshCerebellar Ataxia
dc.subject.meshCerebellum
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshCongenital Disorders of Glycosylation
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshPhosphotransferases (Phosphomutases)
dc.subject.meshSeverity of Illness Index
dc.titlePhosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
dc.typeArtículo
dc.identifier.pubmedID26502900
dc.format.volume10
dc.format.page138
dc.identifier.e-issn1750-1172
dc.identifier.journalOrphanet journal of rare diseases
dc.identifier.doi10.1186/s13023-015-0358-y
dc.identifier.pmcPMC4623922
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos
Hospitales > H. U. La Paz > Artículos

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