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Neurological impairment in nephropathic cystinosis: motor coordination deficits
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein. Cystine accumulates in cells throughout the body and causes progressive damage to multiple organs, including the bra...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923721/ https://www.ncbi.nlm.nih.gov/pubmed/20652328 http://dx.doi.org/10.1007/s00467-010-1589-8 |