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Pyruvate dehydrogenase phosphatase deficiency
- ... dehydrogenase E3-binding protein deficiency Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase deficiency National Organization for Rare Disorders ( ...
- ... Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers ...