La mucopolisacaridosis tipus VII és un trastorn autosòmic recessiu causat per una
deficiència de β-glucuronidasa,(GUSB) que condueix a l'acumulació de glicosaminoglicans …

Mucopolysaccharidosis type I is one of the most frequent lysosomal storage diseases. It has
a high morbidity and mortality, causing in many cases severe neurological and somatic …

Introduction. The mucopolysaccharidosis VI is caused by the deficiency of n-
acetilgalactosamina-4-sulfatase, one of eleven lysosomal enzymes responsible for …

Mucopolysaccharidosis (MPS) is a group of inherited conditions involving metabolic
dysfunction. Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan …

The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases
caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting …

Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomal-recessively inherited disorder
caused by the deficiency of lysosomal sulphamidase (NS) enzyme activity, resulting in the …

Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe lysosomal storage disease caused by
deficiency in activity of the transmembrane enzyme heparan-α-glucosaminide N …

Mucopolysaccharidosis type III is a group of four autosomal recessive enzyme deficiencies
leading to tissue accumulation of heparan sulfate. Central nervous system disease is …

Abstract Background Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a
chronic progressive neurodegenerative storage disorder caused by a deficiency of …

Background Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal
storage disorder for which there is currently no effective therapy. Though numerous potential …