Curcumin (CU) is a polyphenolic compound extracted from turmeric, a well-known dietary
spice. Since it has been shown that CU exerts beneficial effects on human health, interest …

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 …

Enzyme replacement therapy is the only therapeutic option for Fabry patients with
completely absent AGAL activity. However, the treatment has side effects, is costly, and …

Fabry disease is an invalidating multisystemic disorder affecting α-Galactosidase, a rate-
limiting hydrolase dedicated to lipid catabolism. Non-metabolized substrates, such as …

Mucopolysaccharidosis (MPS) encompasses a group of genetic lysosomal storage
disorders, linked to reduced life expectancy and a significant lack of effective treatment …

Rare diseases, or orphan diseases, are defined as diseases affecting a small number of
people compared to the general population. Among these, we find lysosomal storage …

Anderson–Fabry disease (AFD) remains a therapeutic challenge despite advances in early
diagnosis and the availability of enzyme replacement therapies (ERTs). While early initiation …

Fabry disease (FD), otherwise known as Anderson-Fabry disease, is a sex-linked
chromosomal disorder affecting the lysosomal storage functions of the body. Male sex is …

Niemann–Pick disease type C (NPC) is an autosomal recessive disorder with progressive
neurodegeneration. Although the causative genes were previously identified, NPC has …

Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases associated with
reduced life expectancy and a substantial unmet medical need. Immunomodulatory drugs …