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Article

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2008

Gerth Christina, Morel Chantal F, Feigenbaum Annette, Levin Alex V

Abstract excerpt

PURPOSE: To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene. METHODS: Vision function, anterior segment, and fundi were evaluated in patients wi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18848477
DOI: 10.1016/j.jaapos.2008.06.008

Genes

MMACHC
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18848477-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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