Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
Abstract 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...
Main Authors: | Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-04-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-021-01818-0 |
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