Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia.


Inorganic pyrophosphate (PPi) influences the formation of bone mineral. In the rare inherited disease hypophosphatasia, abnormal extracellular metabolism of PPi occurs together with defective skeletal mineralization. The primary biochemical defect in this condition is a deficiency of the bone/liver/kidney (tissue nonspecific) isoenzyme of alkaline… (More)


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