ba0007p79 | (1) | ICCBH2019
Raimann Adalbert
, Mehany Sarah N
, Feil Patricia
, Weber Michael
, Boni-Mikats Andrea
, Klepochova Radka
, Krssak Martin
, Pietschmann Peter
, Haeusler Gabriele
, Schneider Johannes
, Raum Kay
, Patsch Janina
Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...