Article
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
The Journal of the Association of Physicians of India - 1 May 2013
Chauhan V, Kumar R V, Mahesh D M, Kashyap R, Thakur S
Abstract excerpt
Gaucher disease is the most common lysosomal storage disorder. It is autosomal recessive in nature and results from mutations in the GBA gene coding for acid beta glucosidase. It is classified into three types based on CNS involvement and its severity. Type 3, or chronic neuronopathic Gaucher disease, generally has an onset in childhood and by definition, includes all patients with any form of neurologic...
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