Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five
autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) …

Abstract Mucopolysaccharidosis (MPS) types IIIA, B, C, and D are a group of autosomal
recessive lysosomal storage diseases caused by mutations in one of four genes which …

A lysosomal storage disease (LSD) results from deficient lysosomal enzyme activity, thus the
substrate of the mutant enzyme accumulates in the lysosome, leading to pathology. In many …

Sanfilippo syndrome (MPS III) is an autosomal recessive inherited disorder causing
dementia in children, following an essentially normal early developmental period. First …

The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound exporter protein
involved in regulating serum HDL level by exporting cholesterol and phospholipids to load …

Abstract Mucopolysaccharidosis type IIIA (MPS IIIA; Sanfilippo syndrome) is a lysosomal
storage disorder characterized by severe CNS degeneration, resulting in behavioral …

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe,
progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in …

Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused
by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan …

Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), a fatal childhood-onset
neurodegenerative disease with mild facial, visceral and skeletal abnormalities, is caused …

Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomal recessive disease that occurs
due to a deficiency of heparan sulfate sulfamidase (SGSH). The deficiency of SGSH results …