Jan 4, 2024 · Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, …

Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among …

Dec 5, 2017 · MPS VII is caused by changes (mutations) in the GUSB gene that lead to deficiency of the beta-glucuronidase enzyme. A variety of different mutations in this gene may account …

MPS VII is a mucopolysaccharide disease also known as Sly syndrome. It takes its name from Dr. William Sly who originally described the condition in 1972. What causes this disease? …

Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an ultra-rare lysosomal disease caused by a deficiency of the enzyme β-glucuronidase (GUS). The diagnosis is suspected based on a …

Mucopolysaccharidosis VII (MPS VII), also called Sly syndrome, is a genetic metabolic disorder caused by a deficiency of the lysosomal enzyme β-glucuronidase. 1,2 MPS VII is a …

A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging …

Mucopolysaccharidosis (MPS) type 7, also known as Sly syndrome, is a rare, inherited enzyme deficiency. Babies with this genetic disorder do not produce an enzyme needed to break down …

ERT with recombinant human beta-glucuronidase has been approved in Europe and the USA for MPS type 7, and has shown improvement in walking, lung function and hepatosplenomegaly …

Mucopolysarcharidosis type VII (MPS VII) is a rare, inherited disorder. It is classified as a lysosomal storage disorder (LSD), in which a genetic variation disrupts the normal activity of …