Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p64 | (1) | ICCBH2019

Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model

Braddock Demetrios , Oheim Ralf , Zimmerman Kristin , Kavanagh Dillon , Horowitz Mark , Carpenter Thomas

Biallelic ENPP1 deficiency in humans induces hypophosphatemic rickets in children characterized by increased circulating FGF23 levels and renal phosphate wasting (‘Autosomal Recessive Hypophosphatemic Rickets Type 2’, or ARHR2), but osteopenia or osteoporosis has not been described in adults. Here, we describe three adult male patients (ages 43, 59, and 62) suffering from early-onset osteoporosis who presented to the Institute of Osteology and Biomechanics at the Uni...