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2-Hydroxyglutaric Aciduria – Definition, Diagnosis, and Pathophysiology

What is 2-hydroxyglutaric aciduria? What is the definition of 2-hydroxyglutaric aciduria? How is a 2-hydroxyglutaric aciduria usually diagnosed? What is the pathophysiology of 2-hydroxyglutaric aciduria? Why it can sometimes be difficult to diagnose a 2-hydroxyglutaric aciduria?

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