M Pieroni, JC Moon, E Arbustini… - Journal of the American …, 2021 - jacc.org
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide …
F Crea, RA Montone, R Rinaldi - Circulation Journal, 2022 - jstage.jst.go.jp
Ischemic heart disease (IHD) is commonly recognized as the consequence of coronary atherosclerosis and obstructive coronary artery disease (CAD). However, a significant …
G Limongelli, R Adorisio, C Baggio, B Bauce… - International journal of …, 2022 - Elsevier
Cardiomyopathies (CMPs) are myocardial diseases in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular …
A Burlina, E Brand, D Hughes, I Kantola… - Molecular Genetics and …, 2023 - Elsevier
Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in various tissues and body fluids, leading to progressive organ damage …
A Mehta, DA Hughes - Seattle (WA), 1993 - Wiley Online Library
Fabry disease is generally considered to be the second most prevalent lysosomal storage disorder, after Gaucher disease, with an estimated incidence ranging between 1: 40,000 …
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 …
A Iorio, F Luca, A Pozzi, CM Rao, C Chimenti… - Diagnostics, 2024 - mdpi.com
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha …
Abstract Objectives Cardiac involvement in Anderson-Fabry disease (AFD) results in myocardial lipid depositions. An early diagnosis can maximize therapeutic benefit. Thus, this …
S Figliozzi, A Camporeale, S Boveri, F Pieruzzi… - International Journal of …, 2021 - Elsevier
Objectives To elaborate an ECG-based nomogram estimating the probability to detect cardiac involvement by cardiac magnetic resonance (CMR) in Fabry Disease (FD). Methods …