Gaucher disease, the most common lysosomal storage disorder, is caused by the defective
activity of the lysosomal enzyme, acid‐β‐glucosidase (GlcCerase), leading to accumulation …

The past decade has witnessed remarkable advances in our ability to treat inherited
metabolic disorders, especially the lysosomal storage diseases, a group of more than 40 …

The therapeutic options for lysosomal storage diseases (LSDs) have expanded greatly over
the past decade, although for many disorders there is still no effective treatment. Given that …

Niemann–Pick type C, or NPC for short, is an early childhood disease exhibiting progressive
neurological degeneration, associated with hepatosplenomegaly in some cases. The …

This user-friendly clinical handbook provides a clear and concise overview of how to go
about recognizing and diagnosing inherited metabolic diseases. The reader is led through …

Introduction: Mutations in the gene encoding for acid β-glucosidase (β-glucocerebrosidase,
GlcCerase) are seen in Gaucher disease (GD), which give rise to significant protein …

Gaucher disease is caused by an inherited deficiency of glucocerebrosidase that manifests
with storage of glycolipids in lysosomes, particularly in macrophages. Available cell lines …

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by
mutations in the glucocerebrosidase gene. Missense mutations result in reduced enzyme …

The lysosomal storage disorders encompass more than 40 distinct diseases, most of which
are caused by the deficient activity of a lysosomal hydrolase leading to the progressive …

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 …