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 …

Fabry disease (-galactosidase A deficiency) is an X-linked recessive lysosomal storage
disorder. Although the disease presents in childhood and culminates in cardiac …

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 …

Among the known genetic risk factors for Parkinson disease, mutations in GBA1, the gene
responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic …

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 …

Background: Fabry disease (α-galactosidase A deficiency) is a rare, X-linked lysosomal
storage disorder that can cause early death from renal, cardiac, and cerebrovascular …

In 1964, Christian de Duve first suggested that enzyme replacement might prove therapeutic
for lysosomal storage diseases (LSDs). Early efforts identified the major obstacles, including …

Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous
multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer …

Gaucher's disease, a lysosomal storage disorder caused by mutations in the gene encoding
glucocerebrosidase (GCD), is currently treated by enzyme replacement therapy using …

Patients with rare diseases are a major challenge for healthcare systems. These patients
face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to …