Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1974;10(4):114-7.

Cystinosis

J D Schulman
  • PMID: 4470886

Cystinosis

J D Schulman. Birth Defects Orig Artic Ser. 1974.

Abstract

This paper about cystinosis is focused primarily on nosology and genetic heterogeneity, the recurrent themes of these conferences. It briefly discusses cystinosis in relation to other disorders which cause the renal Fanconi syndrome with or without glomerular insufficiency, points out the methods for its reliable diagnosis, and then summarizes evidence suggesting that cystinosis should be classified as one of the lysosomal storage diseases. More extensive reviews of cystinosis are available.

PubMed Disclaimer