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Gaucher disease and the synucleinopathies: refining the relationship

Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological changes, and orthopaedic complications being...

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Detalles Bibliográficos
Autores principales: Campbell, Tessa N, Choy, Francis YM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295725/
https://www.ncbi.nlm.nih.gov/pubmed/22289779
http://dx.doi.org/10.1186/1750-1172-7-12