[HTML][HTML] An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
DP Germain, G Altarescu, R Barriales-Villa… - Molecular genetics and …, 2022 - Elsevier
Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …
Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies
T Averbuch, JA White, NM Fine - Frontiers in Cardiovascular Medicine, 2023 - frontiersin.org
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by
deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a …
deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a …
Fatigue as hallmark of Fabry disease: role of bioenergetic alterations
J Gambardella, E Riccio, A Bianco… - Frontiers in …, 2024 - frontiersin.org
Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-
galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction …
galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction …
Fabry disease: More than a phenocopy of hypertrophic cardiomyopathy
K Stankowski, S Figliozzi, V Battaglia… - Journal of Clinical …, 2023 - mdpi.com
Fabry disease (FD) is a genetic lysosomal storage disease with frequent cardiovascular
involvement, whose presence is a major determinant of adverse clinical outcomes. As a …
involvement, whose presence is a major determinant of adverse clinical outcomes. As a …
Clinical staging of Anderson-Fabry cardiomyopathy: an operative proposal
A Del Franco, G Iannaccone, MC Meucci, R Lillo… - Heart failure …, 2024 - Springer
As a slowly progressive form of hypertrophic cardiomyopathy (HCM), Anderson-Fabry
disease (FD) resembles the phenotype of the most common sarcomeric forms, although …
disease (FD) resembles the phenotype of the most common sarcomeric forms, although …
[HTML][HTML] Cardiovascular Involvement in Fabry's Disease: New Advances in Diagnostic Strategies, Outcome Prediction and Management
E Monda, L Falco, G Palmiero, M Rubino… - Cardiac Failure …, 2023 - ncbi.nlm.nih.gov
Cardiovascular involvement is common in Fabry's disease and is the leading cause of
morbidity and mortality. The research is focused on identifying diagnostic clues suggestive …
morbidity and mortality. The research is focused on identifying diagnostic clues suggestive …
Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy
Background: Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are genetically
inherited diseases with left ventricular hypertrophy (LVH) phenotype characteristics that …
inherited diseases with left ventricular hypertrophy (LVH) phenotype characteristics that …
Effects of Enzyme Replacement Therapy on Cardiac MRI Findings in Fabry Disease: A Systematic Review and Meta-Analysis
S Figliozzi, E Kollia, A Simistiras… - Radiology …, 2024 - pubs.rsna.org
Purpose To perform a systematic review and meta-analysis to assess the effect of enzyme
replacement therapy on cardiac MRI parameters in patients with Fabry disease. Materials …
replacement therapy on cardiac MRI parameters in patients with Fabry disease. Materials …
Electrocardiographic characteristics and their correlation with echocardiographic alterations in Fabry disease
M Zada, Q Lo, SJ Trivedi, M Harapoz, AC Boyd… - Journal of …, 2022 - mdpi.com
Fabry disease (FD) is an X-linked disorder with α-galactosidase A deficiency. Males (> 30
years) and females (> 40 years) often present with cardiac manifestations, predominantly left …
years) and females (> 40 years) often present with cardiac manifestations, predominantly left …
Clinical study of left ventricular structure and function in patients with Anderson–Fabry disease before and after enzyme replacement therapy
S Huang, J Wang, W Zhang, F Gao… - Journal of Clinical …, 2024 - Wiley Online Library
Aims Cardiac left ventricular hypertrophy (LVH) is the most common manifestation of heart
involvement in Anderson–Fabry disease (AFD). Conventional cardiac imaging is not …
involvement in Anderson–Fabry disease (AFD). Conventional cardiac imaging is not …