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.
Bar chart showing 11 publications over 9 distinct years, with a maximum of 2 publications in 2019 and 2020
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.