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.

expand / collapse MeSH information
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.


expand / collapse publications
This graph shows the total number of publications written about "Cystinosis" by people in this website by year, and whether "Cystinosis" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_