Phosphofructokinase deficiency; past, present and future.

  title={Phosphofructokinase deficiency; past, present and future.},
  author={Hiromu Nakajima and Nina Raben and Tomoya Hamaguchi and Tomoyuki Yamasaki},
  journal={Current molecular medicine},
  volume={2 2},
Phosphofructokinase deficiency (Tarui disease, glycogen storage disease VII, GSD VII) stands out among all the GSDs. PFK deficiency was the first recognized disorder that directly affects glycolysis. Ever since the discovery of the disease in 1965, a wide range of biochemical, physiological and molecular studies of the disorder have greatly expanded our understanding of the function of normal muscle, general control of glycolysis and glycogen metabolism. The studies of PFK deficiency vastly… CONTINUE READING


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