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 (¬ĎAutosomal Recessive Hypophosphatemic Rickets Type 2¬í, 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...