Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Abstract Purpose of Review This review explores the interplay among metabolic dysfunction,
oxidative stress, inflammation, and fibrosis in Fabry disease, focusing on their potential …

Pompe disease is a genetic disorder produced by mutations in the GAA gene leading to
absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the …

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically
inherited myopathies in adults. It is characterized by incomplete penetrance and variable …

Pharmacological research has expanded to the nanoscale level with advanced imaging
technologies, enabling the analysis of drug distribution at the cellular organelle level. These …

Abstract In August 2021, the US Food and Drug Administration approved Nexviazyme
(avalglucosidase alfa-ngpt) for intravenous infusion to treat patients 1 year of age and older …

The induction of immunological tolerance is a promising strategy for managing autoimmune
diseases, allergies, and transplant rejection. Tregitopes, a class of peptides, have emerged …

Rare genetic diseases are a group of life-threatening disorders affecting significant
populations worldwide and posing substantial challenges to healthcare systems globally …

Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-
galactosidase gene. This leads to the accumulation of globotriaosylceramide (Gb3) and …