URMC Research Network

Find People
Keyword
Last Name
 
More Search Options

Sandhoff Disease

"Sandhoff Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.


publications
This graph shows the total number of publications written about "Sandhoff Disease" by people in the URMC Research Network by year, and whether "Sandhoff Disease" was a major or minor topic of these publication.