Novel imaging findings in pyruvate dehydrogenase complex ( PDHc ) deficiency—Results from a nationwide population‐based study

Abstract excerpt

The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges both in diagnostics and disease monitoring. Prompt diagnosis is important to enable early initiation of ketogenic diet. The patients were recruited from an ongoing population-based study in Sweden. All patients with a genetically confirmed diagnosis who had been investigated with an MRI of...

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