ea0063gp118 | Calcium and Bone 2 | ECE2019
Zimmermann Anca
, Popp Radu
, Rossmann Heidi
, Bucerzan Simona
, Nascu Ioana
, Leucuta Daniel
, Weber Matthias
, Grigorescu-Sido Paula
Purpose: Osteopathy/osteoporosis in Gaucher disease type 1 (GD1) shows variable responses to enzyme replacement therapy (ERT); the pathogenesis is incompletely understood. We aimed to investigate the effect of several gene variants on bone mineral density (BMD) and serum markers of bone metabolism in GD1.Patients/methods: 50 adult Caucasian patients with GD1/117 controls were genotyped for gene variants in the osteoprotegerin (TNFRSF11B; OPG), estrogen r...