Enzyme replacement therapy for murine hypophosphatasia.

  title={Enzyme replacement therapy for murine hypophosphatasia.},
  author={J. L. Mill{\'a}n and Sonoko Narisawa and Isabelle Lemire and Thomas P. Loisel and Guy Boileau and Pierre Leonard and Svetlana Gramatikova and Robert A. Terkeltaub and Nancy Pleshko Camacho and Marc D McKee and Philippe Crine and Michael P Whyte},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  volume={23 6},
INTRODUCTION Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP). Consequently, natural substrates for this ectoenzyme accumulate extracellulary including inorganic pyrophosphate (PPi), an inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), a co-factor form of vitamin B6. Babies with the infantile form of HPP… CONTINUE READING