ESPE Abstracts

Introduction: Hypophosphatasia (HPP) is caused by inactivating mutation(s) within the gene for tissue nonspecific alkaline phosphatase (TNSALP). Patients with the perinatal and infantile forms of HPP suffer rickets, poor growth, and delayed gross motor function. In 2012, we detailed significant improvement in skeletal mineralization and respiratory function in such patients treated for 1 year with asfotase alfa, a bone-targeted recombinant human TNSALP,1 and recentl...