Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases (LSD)
caused by genetic defects. These genetic defects lead to a lack or deficiency of enzymes …

Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated
with inborn errors of metabolism, such as disorders of amino acid metabolism and transport …

The oxytocin receptor (OXTR), encoded by the OXTR gene, is responsible for the signal
transduction after binding its ligand, oxytocin. Although this signaling is primarily involved in …

Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting
enzyme functions, which in turn interfere with normal development and activity of the …

Abstract Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal
storage disorder, caused by a deficiency in one of the four enzymes involved in the …

Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative
lysosomal storage disorders that is characterized by childhood dementia. The clinical …

The mucopolysaccharidoses (MPS) are a group of diseases caused by the lysosomal
accumulation of glycosaminoglycans, due to genetic deficiencies of enzymes involved in …

Abstract Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan
inherited lysosomal storage disease and one of the most common MPS subtypes. The …

Mucopolysaccharidoses (MPS) are estimated to affect1 in 25,000 live births although
specific rates vary between the ethnic origin and country. MPS are a group of lysosomal …

Mucopolysaccharide diseases are a group of paediatric inherited lysosomal storage
diseases that are caused by enzyme deficiencies, leading to a build-up of …