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ea0063gp118 | Calcium and Bone 2 | ECE2019

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1

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...

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Endocrine Abstracts

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1

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