ba0007p204 | (1) | ICCBH2019
Ferizovic Nermina
, Mak Catherine
, Marshall Jade
, Shaw Nick
, Mughal Zulf
Objectives: XLH is a rare, genetic, inherited disorder characterised by low blood phosphate which leads to inadequate mineralisation of bone, resulting in a spectrum of skeletal and functional muscle abnormalities, abnormal tooth development, physical and functional impairments. Treatment with conventional therapy places a significant burden on patients and families; it can require complex treatment dosage schedules, is often poorly tolerated, and can be associated with seriou...