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Article

Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis.

Neurochemical research - 1 May 2000

Fliesler S J, Richards M J, Miller C, Peachey N S, Cenedella R J

Abstract excerpt

Desmosterolosis is a rare, autosomal recessive, human disease characterized by multiple congenital anomalies in conjunction with grossly elevated levels of desmosterol and markedly reduced levels of cholesterol in all bodily tissues. Herein, we evaluated retinal sterol composition, histology, and electrophysiological function in an animal model that exhibited the biochemical features of desmosterolosis, produced...

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Identifiers

PMID: 10905631
DOI: 10.1023/a:1007519321917
PMCID: PMC2844951

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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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