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Article

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).

Orphanet journal of rare diseases - 13 Apr 2021

Francisco Ana A, Berruti Alaina S, Kaskel Frederick J, Foxe John J, Molholm Sophie

Abstract excerpt

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 substantially increased life expectancy, necessitating deeper understanding of its impact on neurocognitive function...

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Source

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Identifiers

PMID: 33849633
DOI: 10.1186/s13023-021-01818-0
PMCID: PMC8045394

Genes

CTNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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