Fabry disease is a frequent lysosomal storage disorder secondary to the deficiency of alpha-
galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic …

Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot
(DBS) specimens has been routinely used since the inception of newborn screening (NBS) …

Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …

Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of
glycosphingolipids in various tissues and body fluids, leading to progressive organ damage …

Sphingolipids play an important role in the development of diabetes, both type 1 and type 2
diabetes, as well as in the development of both micro-and macro-vascular complications …

Background Lysosphingolipids, the N-deacylated forms of sphingolipids, have been
identified as potential biomarkers of several sphingolipidoses, such as Gaucher, Fabry …

Background Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by
mutations in the α-galactosidase A gene (GLA) leading to deficiency of α-galactosidase A …

Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a
heterogeneous group of conditions caused by defects in lysosomal function. LDs may result …

Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA
gene causing complete or partial deficiency of the enzyme a-galactosidase A (a-Gal A), and …

Fabry disease (FD) is a rare inherited disorder characterized by a wide range of systemic
symptoms; it is particularly associated with cardiovascular and renal problems. Enzyme …