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

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Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay

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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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The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement

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Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy

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