Anderson-Fabry disease (FD) is a rare genetic, progressive, and multi-systemic condition,
with X-linked inheritance. This is caused by pathogenic variants in the GLA gene, coding for …

Opinion statement Fabry disease is an X-linked, lysosomal storage disorder caused by a
mutation in the GLA gene leading to a deficiency in alpha-galactosidase A enzyme (α-Gal A) …

Fabry disease is an X-linked lysosomal storage disorder due to deficiency of the enzyme α-
galactosidase A. The principal clinical manifestations of Fabry disease consist of …

Fabry disease (FD) is a recessive monogenic disease linked to chromosome X due to more
than two hundred mutations in the alfa-galactosidase A (GLA) gene. Modifications of the …

Fabry is an X-linked disorder of glycosphingolipid metabolism that is caused by variants of
the GLA gene that codes for α-galactosidase A, leading to lysosomal accumulation of …

Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD is
an X-linked lysosome storage disorder that results in α-galactosidase A deficiency. The …

The neurological manifestations of Fabry disease include both peripheral nervous system
and CNS involvement, with globotriaosylceramide accumulation found in Schwann cells and …

Objectives Fabry disease (FD) is a rare X‐linked lysosomal storage disorder with variable
phenotypes, including neurological symptoms. These can be influenced by vascular …

Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the
alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal …

Fabry disease represents an X-linked inherited disorder resulting in the accumulation of
globotriaosylceramide (Gb3). This review explains the clinical manifestations and the …