Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …

The South Asian population, numbered at 1.8 billion, is estimated to comprise around 20%
of the global population and 1% of the American population, and has one of the highest …

A total of 11 948 females suspicious of Fabry disease were tested by a combined
biochemical and genetic approach. The enzyme activity, together with the concentration of …

Fabry disease (FD) is a rare genetic lysosomal storage disorder, resulting from partial or
complete lack of alpha-galactosidase A (α-GAL) enzyme, leading to systemic accumulation …

Objectives Most acquired neuropathies are treatable, whereas genetic neuropathies
respond to treatment in Fabry's disease (FD), transthyretin‐related familial amyloidosis (TTR …

The current study aimed to explore phenotypic evolution in Fabry disease according to
demographics, genotype, specific enzyme activity and pathogenicity scores. We integrated …

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA
gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary …

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA
gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary …

Introducción: Las lesiones nerviosas perioperatorias son causa de gran preocupación para
los anestesiólogos. La meralgia parestésica es un síndrome de dolor y parestesia en la …

Background: Fabry disease (FD) is a form of lysosomal storage disorders (LSDs) that occurs
due to reduction in α-galactosidase A (α-Gal A) activity which leads to accumulation of …