Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephrop...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2018-03-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/article/10.3389/fped.2018.00058/full |