Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

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.

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.


This graph shows the total number of publications written about "Sandhoff Disease" by people in Harvard Catalyst Profiles by year, and whether "Sandhoff Disease" was a major or minor topic of these publication.
To see the data from this visualization as text,
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.