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Article

Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.

Acta ophthalmologica - 1 May 2008

Fahnehjelm Kristina Teär, Holmström Gerd, Ying Liu, Haglind Charlotte Bieneck, Nordenström Anna, Halldin Maria, Alm Jan, Nemeth Antal, von Döbeln Ulrika

Abstract excerpt

PURPOSE: To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis, treatment and other clinical parameters. METHODS: Ten children with LCHAD deficiency underwent repeated ophthalmological evaluations including ERG. RESULTS: All 10...

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Source

Identifiers

PMID: 18162058
DOI: 10.1111/j.1600-0420.2007.01121.x

Genes

ERG

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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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