Article
Phosphofructokinase deficiency; past, present and future.
Current molecular medicine - 1 Mar 2002
Nakajima Hiromu, Raben Nina, Hamaguchi Tomoya, Yamasaki Tomoyuki
Abstract excerpt
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...
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