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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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Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: Francisco, Ana A., Berruti, Alaina S., Kaskel, Frederick J., Foxe, John J., Molholm, Sophie
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Online pristup: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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