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Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease
BackgroundFabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are...
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Oxidative stress and its role in Fabry disease
Fabry disease is a rare X-linked disease characterized by deficient expression and activity of alpha-galactosidase A with consequent lysosomal...
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Fabry Disease: Cardiac Implications and Molecular Mechanisms
Purpose of ReviewThis review explores the interplay among metabolic dysfunction, oxidative stress, inflammation, and fibrosis in Fabry disease,...
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Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
BackgroundAlthough peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports...
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Outcomes and management of kidney transplant recipients with Fabry disease: a review
AbstractFabry disease is an X-linked inheritable lysosomal storage disease caused by various mutations of the galactosidase α gene resulting in...
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Amyloidosis and Fabry Disease A Clinical Guide
This book presents a multispecialty and multidisciplinary approach on Amyloidosis and Fabry disease. These two “rare” diseases are underdiagnosed and...
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Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
BackgroundPregnancy and delivery outcomes in women with Fabry disease are not well described.
MethodsRetrospective cohort-study of women with Fabry...
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Pathogenic pathways of renal damage in Fabry nephropathy: interplay between immune cell infiltration, apoptosis and fibrosis
BackgroundFabry nephropathy is a consequence of the deposition of globotriaosylceramide, caused by deficient GLA enzyme activity in all types of...
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Neurootologische Manifestationen bei Morbus Fabry – eine retrospektive Analyse
BackgroundFabry disease (FD) is one of the X‑linked lysosomal storage diseases that can affect any organ. They have a specific lysosomal dysfunction...
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Diagnosing Fabry nephropathy: the challenge of multiple kidney disease
Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in...
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Morbus Fabry
Fabry disease is an inherited X‑linked lysosomal storage disorder of the glycosphingolipid metabolic pathway. The enzyme activity of...
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Arrhythmogenesis in Fabry Disease
Purpose of ReviewFabry Disease (FD) is a rare lysosomal storage disorder characterised by multiorgan accumulation of glycosphingolipid due to...
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Brain MRI correlations with disease burden and biomarkers in Fabry disease
ObjectiveTo quantitatively evaluate cerebral small vessel disease (CSVD) in brain magnetic resonance imaging (MRI) and its correlation with disease...
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Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel
BackgroundFabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and...
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The prevalence of Fabry disease in a Turkish population with chronic kidney patients
Background and objectivesFabry disease (FD) is an X-linked lysosomal storage disease with various clinical symptoms due to a deficiency of an enzyme...
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What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview
Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids....
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Fabry disease: a rare disorder calling for personalized medicine
Fabry Disease (FD) is a genetic disease caused by a deficiency in the activity of lysosomal galactosidase A (α-GalA), an enzyme responsible for the...
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Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation
Background and ObjectiveFabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A)....
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Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal
As a slowly progressive form of hypertrophic cardiomyopathy (HCM), Anderson-Fabry disease (FD) resembles the phenotype of the most common sarcomeric...
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Patient with Fabry disease undergoing cardiac surgery: a word of caution
Fabry disease (FD) is a rare genetic disorder that affects various organs and systems in the body. The disease is caused by a deficiency in the...
