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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pyruvate dehydrogenase complex deficiency
Symptom C0393588|paroxysmal dystonia
Sentences 1
PubMedID- 20691944 Zonisamide was chosen for treatment of secondary paroxysmal dystonia in a patient with pyruvate dehydrogenase deficiency (case 1) and in two patients with neonatal hemochromatosis and family history of neonatal hemochromatosis (cases 2 and 3).

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