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Article

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

Ophthalmology - 1 Oct 2016

Boese Erin A, Jain Nieraj, Jia Yali, Schlechter Catie L, Harding Cary O, Gao Simon S, Patel Rachel C, Huang David, Weleber Richard G, Gillingham Melanie B, Pennesi Mark E

Abstract excerpt

PURPOSE: To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders. DESIGN: Retrospective case series. PARTICIPANTS: Consecutive patients with MTP disorders evaluated at a single center from 1994 through 2015, including 18 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and 3 patients with trifunctional...

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Identifiers

PMID: 27491397
DOI: 10.1016/j.ophtha.2016.06.048
PMCID: PMC5035590

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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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