Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Gaucher's disease continues to be a model for applications of molecular medicine to clinical
delineation, diagnosis, and treatment. Analyses of several thousand affected individuals …

Purpose To assess olipudase alfa enzyme replacement therapy for non–central nervous
system manifestations of acid sphingomyelinase deficiency (ASMD) in children. Methods …

Comprehensive Biotechnology, Third Edition, Six Volume Set unifies, in a single source, a
huge amount of information in this growing field. The book covers scientific fundamentals …

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal
disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) …

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 …

Background The mainstay of treatment for Gaucher's disease type 1 is alternate-week
infusion of enzyme replacement therapy (ERT). We investigated whether patients stable on …

Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited
deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is …

Abstract Taliglucerase alfa (Protalix Biotherapeutics, Carmiel, Israel) is a novel plant cell–
derived recombinant human β-glucocerebrosidase for Gaucher disease. A phase 3, double …