Fabry's disease
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the
GLA gene, which leads to a deficiency in α-galactosidase A. The consequent abnormal …
GLA gene, which leads to a deficiency in α-galactosidase A. The consequent abnormal …
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts
Background Enzyme replacement therapy (ERT) with recombinant human α-galactosidase
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
M Banikazemi, J Bultas, S Waldek… - Annals of internal …, 2007 - acpjournals.org
Background: Fabry disease (α-galactosidase A deficiency) is a rare, X-linked lysosomal
storage disorder that can cause early death from renal, cardiac, and cerebrovascular …
storage disorder that can cause early death from renal, cardiac, and cerebrovascular …
Natural course of Fabry disease: changing pattern of causes of death in FOS–Fabry Outcome Survey
Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by
severe multisystemic involvement that leads to major organ failure and premature death in …
severe multisystemic involvement that leads to major organ failure and premature death in …
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson–Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase …
Background: Anderson–Fabry disease is an X-linked glycosphingolipid storage disorder
caused by deficient activity of the lysosomal enzyme α-galactosidase A. This leads to a …
caused by deficient activity of the lysosomal enzyme α-galactosidase A. This leads to a …
Fabry disease: a review of current management strategies
Fabry disease is an X-linked inherited condition due to the absence or reduction of α-
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
Fabry disease
R Schiffmann - Pharmacology & therapeutics, 2009 - Elsevier
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by the deficiency of
α-galactosidase A, is associated with dysfunction of many cell types and includes a systemic …
α-galactosidase A, is associated with dysfunction of many cell types and includes a systemic …
The role of cardiac imaging in the diagnosis and management of Anderson-Fabry disease
Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results
in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of …
in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of …
Enzyme replacement therapy for Anderson‐Fabry disease
Background Anderson‐Fabry disease is an X‐linked defect of glycosphingolipid
metabolism. Progressive renal insufficiency is a major source of morbidity, additional …
metabolism. Progressive renal insufficiency is a major source of morbidity, additional …
Effects of enzyme replacement therapy and antidrug antibodies in patients with Fabry disease
M Lenders, E Brand - Journal of the American Society of …, 2018 - journals.lww.com
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations of
the a-galactosidase A gene. The lysosomal enzyme a-galactosidase A (GLA) mediates the …
the a-galactosidase A gene. The lysosomal enzyme a-galactosidase A (GLA) mediates the …