Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p50 | (1) | ICCBH2019

Treatment with asfotase alfa for patients with infantile hypophosphatasia and screening plan of hypophosphatasia by low ALP level and dental findings in Korea

Cho Sungyoon , Jin Dong-Kyu

Background: Hypophosphatasia (HPP) is a rare skeletal disease characterized by defective bone and teeth mineralization and the deficiency of tissue non-specific alkaline phosphatase activity. This disorder is caused by mutations in the ALPL gene, which encodes TNAP. The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization (perinatal form) to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pa...