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2-Methylacetoacetyl CoA Thiolase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 2-methylacetoacetyl CoA thiolase deficiency? What is the definition of 2-methylacetoacetyl CoA thiolase deficiency? How is a 2-methylacetoacetyl CoA thiolase deficiency usually diagnosed? What is the pathophysiology of 2-methylacetoacetyl CoA thiolase deficiency?

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