ba0006p037 | (1) | ICCBH2017
Nicholls Rachel
, Pierre Germaine
, Chronopoulou Effie
, Smithson Sarah F
, Offiah Amaka C
, Barton John S
, Burren Christine P
Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...