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Characterization of cognitive impairment in adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptom...

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Detalles Bibliográficos
Autores principales:	Zebhauser, Paul Theo, Cordts, Isabell, Hengel, Holger, Haslinger, Bernhard, Lingor, Paul, Akman, Hasan Orhan, Haack, Tobias B., Deschauer, Marcus
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9119871/ https://www.ncbi.nlm.nih.gov/pubmed/34999962 http://dx.doi.org/10.1007/s00415-022-10960-z

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