Christopher Lee-Messer
Publication Details
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Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
J Pediatr. 2009; (4): 551-6
To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria.
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