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Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Potnis, Kunal C., Flueckinger, Lauren B., DeArmey, Stephanie M., Alcalay, Roy N., Cooney, Jeffrey W., Kishnani, Priya S.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6198121/
https://ncbi.nlm.nih.gov/pubmed/30364808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.10.001
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