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Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
BACKGROUND: Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045394/ https://www.ncbi.nlm.nih.gov/pubmed/33849633 http://dx.doi.org/10.1186/s13023-021-01818-0 |