Hypophosphatasia (HPP) is the rare inherited metabolic bone disease caused by loss-of-function mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene. Resultant TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, an inhibitor of bone mineralization. Rickets in infants and children has distinctive radiographic features. Here, we report the validity and reproducibility of a novel scoring system to quantify HPP-specific radiographic changes in pediatric patients (pts). Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Mcalister William, Fujita Kenji, Moseley Scott, Thompson David, Whyte Michael

Keywords: Hypophosphatasia