Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

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Springer Publishing Company

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Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency

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Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

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

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Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

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