Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Abstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs...

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Bibliographic Details
Main Authors: Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco
Format: Article
Language:English
Published: BMC 2023-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-023-02985-y