Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency

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Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome

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Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

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Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

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Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex

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