Summary Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal
recessive disorder, caused by a deficiency in one of the four enzymes involved in the …

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 …

The IKKβ and NEMO/IKKγ subunits of the NF-κB-activating signalsome complex are known
to be essential for activating NF-κB by inflammatory and other stress-like stimuli. However …

Abstract Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a
lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D …

Mucopolysaccharidosis III (MPS III) has four forms (A–D) that result from buildup of an
improperly degraded glycosaminoglycan in lysosomes. MPS IIIB is attributable to the …

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

Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and devastating childhood-
onset lysosomal storage disease caused by complete loss of function of the lysosomal …

Lysosomal storage disorders (LSDs) are monogenic diseases, due to accumulation of
specific undegraded substrates into lysosomes. LSD diagnosis could take several years …

Abstract Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal
storage disorder characterized by progressive neurocognitive deterioration. There are four …

Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease
that is caused by the deficiency of the lysosomal enzyme α-N-acetylglucosaminidase …