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Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease

INTRODUCTION: Gaucher disease (GD) is a monogenic, lysosomal storage disorder, classified according to the presence of acute (type 2), chronic (type 3), or no (type 1) neurological manifestations. The Norrbottnian subtype of neuronopathic GD type 3 (GD3) is relatively frequent in the northern part o...

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Detalles Bibliográficos
Autores principales: Tsitsi, Panagiota, Markaki, Ioanna, Waldthaler, Josefine, Machaczka, Maciej, Svenningsson, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8743341/
https://www.ncbi.nlm.nih.gov/pubmed/35028274
http://dx.doi.org/10.1002/jmd2.12262