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
Publicado en:Orphanet J Rare Dis
Main Authors: Francisco, Ana A., Berruti, Alaina S., Kaskel, Frederick J., Foxe, John J., Molholm, Sophie
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8045394/
https://ncbi.nlm.nih.gov/pubmed/33849633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01818-0
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