Gaucher disease (GD), the most common lysosomal disorders, is a rare autosomal
recessive hereditary disease that is caused by deficiency of glucosylceramidase. For now …

Abstract Niemann-Pick Type C (NP-C) is an inherited neurovisceral lysosomal storage
disease characterized by a defect in the trafficking of endocytosed cholesterol. In 95% of …

Gaucher disease (GD) is a lysosomal storage pathological condition, characterized by a
genetic autosomal recessive transmission. The GD cause is the mutation of GBA1 gene …

Sucrase-isomaltase (SI) is an intestinal membrane-associated α-glucosidase that breaks
down di-and oligosaccharides to absorbable monosaccharides. SI has two homologous …

Background & aims Congenital sucrase-isomaltase deficiency (CSID) is a genetic disorder
associated with mutations in the sucrase-isomaltase (SI) gene. The diagnosis of congenital …

The cytosolic-oriented glucosylceramide (GlcCer) synthase is enigmatic, requiring nascent
GlcCer translocation to the luminal Golgi membrane to access glycosphingolipid (GSL) …

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mainly targets the upper
respiratory tract. It gains entry by interacting with the host cell receptor angiotensin …

It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical
symptoms of Fabry disease (FD). The present communication investigates the effects of the …

Background Since the results of previous studies regarding the safety and efficacy of
miglustat in GM2 gangliosidosis (GM2g) were inconsistent, we aimed to assess miglustat …

Background Gastrointestinal (GI) disturbances such as diarrhea and flatulence are the most
frequent adverse effects associated with miglustat therapy in type 1 Gaucher disease (GD1) …