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The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, a r...
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| Publicado no: | Nat Rev Nephrol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5657490/ https://ncbi.nlm.nih.gov/pubmed/27990015 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrneph.2016.182 |
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