Abstract Search

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...

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ba0001pp74 | Bone development/growth and fracture repair | ECTS2013

Metaphyseal fracture healing in a sheep model of low turnover osteoporosis induced by hypothalamic–pituitary disconnection

Bindl Ronny , Oheim Ralf , Pogoda Pia , Beil Frank Timo , Gruchenberg Katharina , Reitmaier Sandra , Wehner Tim , Calcia Enrico , Radermacher Peter , Claes Lutz , Amling Michael , Ignatius Anita

We recently established a large animal model of osteoporosis in sheep using hypothalamicpituitary disconnection (HPD). As central regulation is important for bone metabolism, HPD-sheep developed severe osteoporosis because of low bone turnover. In this study we investigated metaphyseal fracture healing in HPD-sheep. To elucidate potential pathomechanisms, we included a treatment group receiving thyroxine (T4) and 17β-estradiol. Because clinically osteopor...

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Bone Abstracts

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

Metaphyseal fracture healing in a sheep model of low turnover osteoporosis induced by hypothalamic–pituitary disconnection

BiosciAbstracts