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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861330/ https://www.ncbi.nlm.nih.gov/pubmed/29594088 http://dx.doi.org/10.3389/fped.2018.00058 |