Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by
deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide …

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a
lysosomal enzyme deficiency or malfunction, which leads to the accumulation of …

Purpose We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher,
Niemann–Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage …

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA
gene, localized on chromosome 17 and encoding for acid alpha-1, 4-glucosidase (GAA) …

Fabry disease is an X-linked lysosomal storage disease caused by pathogenetic variants in
α-galactosidase A gene (GLA) resulting in absent/deficient α-galactosidase A (α-Gal A) …

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for
phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded …

Cell-generated extracellular vesicles (EVs) are being engineered as biologically-inspired
vehicles for targeted delivery of therapeutic agents to treat difficult-to-manage human …

Incidence and prevalence estimates for Gaucher disease (GD) are scarce for this rare
disease and can be variable within the same region. This review provides a qualitative …