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Article

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

Molecular genetics and metabolism - 1 Apr 2015

Weisfeld-Adams James D, McCourt Emily A, Diaz George A, Oliver Scott C

Abstract excerpt

The association between combined methylmalonic acidemia and homocystinuria of cblC type (cobalamin C defect, cblC) and ocular disease is now well recognized, and is a significant component of morbidity and disability associated with the condition. In this review, through collation of historically reported cases of early- and late-onset cblC and previously unreported cases, we have attempted to characterize the...

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Identifiers

PMID: 25742969
DOI: 10.1016/j.ymgme.2015.01.012

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