Hypophosphatasia: An overview For 2017.

@article{Whyte2017HypophosphatasiaAO,
  title={Hypophosphatasia: An overview For 2017.},
  author={Michael P Whyte},
  journal={Bone},
  year={2017},
  volume={102},
  pages={
          15-25
        }
}
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS