Plant cell culture systems were initially explored for use in commercial synthesis of several
high‐value secondary metabolites, allowing for sustainable production that was not limited …

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 …

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 …

Gaucher disease (GD) involves the accumulation of glucosylceramide (GL1) and its
deacylated lysolipid, glucosylsphingosine (lyso‐GL1) which is implicated in mediating …

Purpose To develop educational guidelines for the diagnostic confirmation and
management of individuals identified by newborn screening, family-based testing after …

Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for
which an effective enzyme replacement therapy was developed and it has become a …

Study of the natural history of Gaucher disease has revealed marked phenotypic variation.
Correlations to genotypes could provide insight into individual susceptibility to varying …

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of
glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen …

A global, observational disease registry has been established to characterize the course of
disease and track clinical outcomes in patients with Mucopolysaccharidosis Type I (MPS I), a …

Eliglustat tartrate is an investigational oral substrate reduction therapy for Gaucher disease
type 1 that is pharmacologically distinct from intravenous enzyme replacement therapy …