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Publications by authors named "Daniel Emil Raaschou-Pedersen"

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No effect of triheptanoin in patients with phosphofructokinase deficiency.
Daniel Emil Raaschou-Pedersen Karen Lindhardt Madsen Nicoline Løkken Jesper Helbo Storgaard Ros Quinlivan

Neuromuscul Disord

April 2022

Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria.

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