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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...

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Detalles Bibliográficos
Autores principales: Francisco, Ana A., Berruti, Alaina S., Kaskel, Frederick J., Foxe, John J., Molholm, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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