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Cystinosis

  • M. Broyer

Abstract

Cystinosis is a generalized lysosomal storage disease of unknown etiology. The lysosomal cystine accumulation leads to cellular dysfunction of many organs, the most serious being renal involvement. Three phenotypic forms are discerned: the nephropathic or infantile form. an intermediate or juvenile-onset form, and a benign or adult form. The infantile form is the most frequent and is the main subject of this chapter.

Keywords

Infantile Form Nephropathic Cystinosis Cystine Content Cystine Crystal Corneal Deposit 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

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  • M. Broyer

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