Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency

S. Aramaki, D. Lehotay, L. Sweetman, W. L. Nyhan, S. C. Winter, B. Middleton

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