Harvard Catalyst Profiles

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

Fabry Disease

"Fabry 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 X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.


This graph shows the total number of publications written about "Fabry Disease" by people in Harvard Catalyst Profiles by year, and whether "Fabry Disease" was a major or minor topic of these publication.
Bar chart showing 58 publications over 19 distinct years, with a maximum of 7 publications in 2002
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.