ESPE Yearbook of Paediatric Endocrinology

In brief: This systematic review, conducted by an international group of experts, provides an overview of the phenotype of patients with hypophosphatasia and proposes updated diagnostic criteria for this disease in children and adults.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase (ALPL) gene, which encodes the tissue nonspecific alkaline phosphatase (TNSALP) enzyme. Low alka...