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Article

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

Orphanet journal of rare diseases - 12 Dec 2023

Horsthuis Douwe J, Molholm Sophie, Foxe John J, Francisco Ana A

Abstract excerpt

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 during early disease, but since therapeutic advances have led to substantially increased life expectancy, neurological...

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Identifiers

PMID: 38087330
DOI: 10.1186/s13023-023-02985-y
PMCID: PMC10714457

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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