Gaucher disease and the synucleinopathies: refining the relationship

Gaucher disease and the synucleinopathies: refining the relationship

<p>Abstract</p> <p>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,...

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Bibliographic Details
Main Authors: Campbell Tessa N, Choy Francis YM
Format: Article
Language:English
Published: BMC 2012-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
glucocerebrosidase
<it>GBA </it>mutations
lysosomal storage disease
synucleinopathies
Parkinson's disease
dementia with Lewy bodies
multiple system atrophy
neurodegeneration with brain iron accumulation
protein misfolding
Online Access:http://www.ojrd.com/content/7/1/12

Internet

http://www.ojrd.com/content/7/1/12

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