Harvard Catalyst Profiles

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

Cystinosis

"Cystinosis" 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.

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.


This graph shows the total number of publications written about "Cystinosis" by people in Harvard Catalyst Profiles by year, and whether "Cystinosis" 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.