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 …

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

Nonspecific gastrointestinal (GI) symptoms, such as postprandial cramping pain, diarrhea,
nausea and vomiting are typical symptoms for irritable bowel syndrome or inflammatory …

Gaucher disease (GD), one of the most common lysosomal storage diseases, is caused by
mutations in the gene, GBA1, that leads to defective glucocerebrosidase activity resulting in …

Fabry disease is a multi-organ disease, caused by mutations in the GLA gene and leading to
a progressive accumulation of glycosphingolipids due to enzymatic absence or malfunction …

Mitochondrial dysfunction has been recognised a major contributory factor to the
pathophysiology of a number of lysosomal storage disorders (LSDs). The cause of …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by
mutations in the acid β-glucosidase gene (GBA1). Besides causing GD, GBA1 mutations …

Hepcidin peptide is crucial in the regulation of systemic iron availability controlling its uptake
from the diet and its release from the body storage tissues. Hepcidin dysregulation causes …

In patients with Fabry disease (FD), cardiovascular involvement is the main cause of death
and reduction of quality of life. Left ventricular hypertrophy mimicking hypertrophic …

Gaucher disease (GD) is caused by biallelic pathogenic variants in the acid β-glucosidase
gene (GBA1), leading to a deficiency in the β-glucocerebrosidase (GCase) enzyme activity …