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Article

Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

Ophthalmology - 1 Jan 2014

Gizicki Robert, Robert Marie-Claude, Gómez-López Lilianne, Orquin Jaqueline, Decarie Jean-Claude, Mitchell Grant A, Roy Marie-Sylvie, Ospina Luis H

Abstract excerpt

OBJECTIVE: To describe the long-term ophthalmologic outcomes of patients with methylmalonic aciduria and homocystinuria, cobalamin C type (cblC). DESIGN: Retrospective case series. PARTICIPANTS: All patients with cblC referred to the Department of Ophthalmology of the Centre Hospitalier Universitaire Sainte-Justine from 1984 through 2012 were studied. Twelve such patients were identified. METHODS: Clinical...

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Source

Identifiers

PMID: 24126030
DOI: 10.1016/j.ophtha.2013.08.034

Genes

MMACHC

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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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