Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference20 articles.
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2. Methylmalonic acidemia;Manoli,2010
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4. Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?;Montgomery;J. Clin. Invest.,1983
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