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Cystinosis: the evolution of a treatable disease
Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer-Verlag
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505515/ https://www.ncbi.nlm.nih.gov/pubmed/22903658 http://dx.doi.org/10.1007/s00467-012-2242-5 |