Results 11 to 20 of about 9,057,553 (322)
Romanian Journal of Neurology, 2018 Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the ...
Ioana Simina Barac +4 more
doaj +4 more sources
Orphanet Journal of Rare Diseases, 2010 Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
Germain Dominique P
doaj +3 more sources
Fabry-betegség – terápiás útmutató [PDF]
Orvosi Hetilap, 2010 A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaozilceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba +29 more
core +6 more sources
Diagnostic and Interventional Imaging, 2015 Fabry disease is a rare X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the lysosomal acid hydrolase enzyme, alpha-galactosidase A. The resulting accumulation of substrate, mostly globotriaosylceramide, leads to a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system.
Daghfous, A. +6 more
+6 more sources
Fabry disease: Mechanism and therapeutics strategies
Frontiers in Pharmacology, 2022 Fabry disease is a monogenic disease characterized by a deficiency or loss of the α-galactosidase A (GLA). The resulting impairment in lysosomal GLA enzymatic activity leads to the pathogenic accumulation of enzymatic substrate and, consequently, the ...
Xi Li +5 more
semanticscholar +1 more source
Fabry Disease: The Current Treatment Landscape
Drugs, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The lysosomal accumulation of glycosphingolipids, especially globotriaosylceramide (
Malte Lenders, E. Brand
semanticscholar +1 more source
Lentivirus-mediated gene therapy for Fabry disease
Nature Communications, 2021 Enzyme and chaperone therapies are used to treat Fabry disease. Such treatments are expensive and require intrusive biweekly infusions; they are also not particularly efficacious.
Aneal Khan +23 more
semanticscholar +1 more source
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions
Biomolecules, 2021 Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3).
Ken Kok +5 more
semanticscholar +1 more source
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. [PDF]
PLoS ONE, 2016 Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has ...
Bianca T A de Greef +7 more
doaj +1 more source
Fabry Disease and the Heart: A Comprehensive Review
International Journal of Molecular Sciences, 2021 Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of ...
O. Azevedo +6 more
semanticscholar +1 more source