hrp0089p3-p181 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018
Aldamiz-Echevarria Koldo
, Diez-Lopez Ignacio
, Arranz Leonor
, Garcia-Barcina MJ
Hypophosphatasia is a congenital disease, characterized by a defect in bone and dental mineralization, secondary to a deficiency in the biosynthesis of the non-specific tissue isoenzyme of bone, liver and kidney alkaline phosphatase (TNSALP). Clinical phenotype varies with age and its clinical expression is sometimes very latent. There is a small but significant number of pediatric patients NOT diagnosed with hypophosphatasia. The values of low phosphatases may go unnoticed in...