The neuronal ceroid lipofuscinoses constitute one of many groups of rare childhood
diseases for which disease-modifying treatments are nonexistent. Disease-specific barriers …

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

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 …

This review presents a cohesive approach to treating patients with Gaucher disease. The
spectrum of the clinical presentation of the disease is broad, yet heretofore there was only …

Impairment of autophagic–lysosomal pathways is increasingly being implicated in
Parkinson's disease (PD). GBA1 mutations cause the lysosomal storage disorder Gaucher …

Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that
often presents in early childhood and is associated with damage to multiple organ systems …

Gaucher disease type 3 is a chronic neuronopathic disorder with wide-ranging effects,
including hepatosplenomegaly, anaemia, thrombocytopenia, skeletal disease and diverse …

Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum.
However, there is no consensus definition of nGD, including no description of how best to …

Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and
is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major …