MPS disorders are associated with a wide spectrum of neurocognitive effects, from mild
problems with attention and executive functions to progressive and degenerative …

The majority of lysosomal storage diseases affect the brain. Treatment of the brain with
intravenous enzyme replacement therapy is not successful, because the recombinant …

Sensory features are highly prevalent among children with autism spectrum disorders (ASD)
and have been shown to cluster into four patterns of response, including …

Objectives To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA),
and identify potential endpoints for future treatment trials. Study design Children with a …

Objective This was an open-label, phase 1/2 dose-escalation, safety trial of intrathecal
recombinant human heparan-N-sulfatase (rhHNS) administered via intrathecal drug delivery …

Background Because of its centrality in the conceptualization of intellectual disability,
reliable and valid measurement of adaptive behaviour is important to both research and …

Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major
neuronopathic component characterized by heparan sulfate (HS) accumulation due to …

Neurological dysfunction represents a significant clinical component of many of the
mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent …

The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage
disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue …

Background Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal
disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of …