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Cystinosis: a review
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin...
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| Udgivet i: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4841061/ https://ncbi.nlm.nih.gov/pubmed/27102039 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0426-y |
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