Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes.

@article{Ronquist2001FamilialPD,
  title={Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes.},
  author={Gunnar Ronquist and Olle Rudolphi and Ingemar Engstr{\"o}m and Anders Waldenstr{\"o}m},
  journal={Journal of internal medicine},
  year={2001},
  volume={249 1},
  pages={85-95}
}
OBJECTIVES To critically evaluate whether an altered calcium homeostasis in erythrocytes could be contributing to the symptomatology of the Tarui's disease, which is an inherited phosphofructokinase (PFK) deficiency of the muscle isoenzyme. PFK is a tetrameric enzyme with three different isoenzymes, muscle (M), liver (L), and platelet (P). Erythrocytes contain a 50 : 50 hybrid of M and L type. The deficiency of the muscle isoenzyme displays a symptomatology which is mainly characterized by… CONTINUE READING

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