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Improving the prognosis of nephropathic cystinosis
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated. Extrarenal organs are also affected, including...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109637/ https://www.ncbi.nlm.nih.gov/pubmed/25114580 http://dx.doi.org/10.2147/IJNRD.S37603 |