There are more than 40 different forms of inherited lysosomal storage diseases (LSDs)
known to occur in humans and the aggregate incidence has been estimated to approach 1 …

Recombinant adeno-associated virus (rAAV) is derived from a small human parvovirus with
an excellent safety profile. In addition, this viral vector efficiently transduces and supports …

5,622,940 A 4, 1997 Ostroff The present invention provides a particulate delivery system
5,633,369 A 5, 1997 Jamas et al. comprising an extracted yeast cell wall comprising beta …

Neurodegenerative lysosomal storage disorders (LSDs) are severe and untreatable, and
mechanisms underlying cellular dysfunction are poorly understood. We found that toxic …

Despite disappointments with early clinical studies, there is continued interest in the
development of gene therapy for the group of metabolic diseases referred to as lysosomal …

Paediatric neurodegenerative diseases are frequently caused by inborn errors in
glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses …

Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of
the lysosomal enzyme β-glucocerebrosidase. The enzyme substrate, glucocerebroside …

In September of 2007 Gaucher Disease received a commendation in the Haematology
category of the 2007 British Medical Association Medical Book Competition! Although rare in …

Lysosomal storage diseases (LSDs) are inherited metabolic disorders caused by deficient
activity of a single lysosomal enzyme or other defects resulting in deficient catabolism of …

Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results
from biallelic mutations in the GBA1 gene resulting in deficient activity of the enzyme …