Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma,
corneal opacity, hypo/and anhidrosis, gastrointestinal symptoms, renal and cardiac …

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of
the enzyme α-galactosidase A. FD causes glycolipids, such as globotriaosylceramide (Gb3) …

Fabry disease is an X-linked disorder affecting both males and females. It is associated with
an increased risk of stroke in up to 4% of patients below 55 years of age in the general …

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

BACKGROUND: To evaluate the presence of ischemic and hemorraghic lesions in brain
MRI of patients with Fabry disease (FD). METHODS: Brain MRI studies in 46 consecutive …

Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the
α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α …

Although clinical evidence of major organ damage is typical of adulthood, many of the signs
and symptoms of Anderson Fabry Disease (AFD) occur frequently in childhood. The clinical …

Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal,
cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present …

Cerebral micro-and macro-vasculopathy have been described in Fabry disease (FD).
Neuronal globotriaosylceramide accumulation in selective cortical and brain stem areas …

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