Deconstructing Sanfilippo Syndrome: On the pathophysiological basis and molecular drivers of mucopolysaccharidosis IIIA

Sanfilippo syndrome (MPS III) is a leading cause of fatal childhood dementia. This thesis describes the development and characterisation of novel experimental models of a Sanfilippo syndrome subtype, MPS IIIA, towards a better understanding of its underlying pathophysiology and enhanced outcomes for patients.