ba0004p20 | (1) | ICCBH2015
Petryk Anna
, Polgreen Lynda E
, Dengel Donald R
, Defor Todd E
, Orchard Paul
Objectives: Autosomal recessive osteopetrosis (OP) is a rare metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mineral density (BMD). Excessive bone compromises bone marrow space, leading to marrow failure. The infantile malignant form is typically fatal within the first decade of life. The intermediate form presents later during childhood. Currently, the only potential curative therapy for OP ...