Results 1 to 10 of about 10,303 (170)

Echocardiography in Anderson-Fabry Disease [PDF]

Reviews in Cardiovascular Medicine, 2022
Echocardiography is the most common diagnostic tool to screen for Fabry cardiomyopathy as it is fast, non-invasive, low-cost, widely available, easily applicable and reproducible.
Rosa Lillo, Maurizio Pieroni, Antonia Camporeale, Michele Ciabatti, Antonella Lombardo, Massimo Massetti, Francesca Graziani   +6 more
doaj   +5 more sources

Anderson–Fabry Disease: Focus on Ophthalmological Implications [PDF]

Life
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease.
Francesca Giovannetti, Mattia D’Andrea, Federico Bracci, Andrea Frustaci, Cristina Chimenti, Pietro Mangiantini, Alessandro Lambiase, Marco Marenco   +7 more
doaj   +4 more sources

Right atrial strain in Anderson–Fabry disease [PDF]

Frontiers in Cardiovascular Medicine
BackgroundTo date, only limited data are available on right atrium (RA) morphofunctional remodeling in Fabry disease (FD).PurposeWe aimed to investigate RA structural and functional remodeling in patients with FD vs.
Rosa Lillo, Rosa Lillo, Alessio Cianci, Maria Chiara Meucci, Giulia Iannaccone, Giulia Iannaccone, Claudio Di Brango, Filippo Tusa, Mario Marsilia, Gaetano Antonio Lanza, Gaetano Antonio Lanza, Antonella Lombardo, Antonella Lombardo, Francesco Burzotta, Francesco Burzotta, Francesca Graziani   +15 more
doaj   +4 more sources

Anderson-Fabry disease: a multiorgan disease. [PDF]

Current Pharmaceutical Design, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo, Antonio Pinto, Giuseppe Licata, Irene Simonetta, Rosaria Pecoraro, Salvatore Miceli   +5 more
core   +6 more sources

Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Biomarkers in Anderson-Fabry Disease. [PDF]

Int J Mol Sci, 2020
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease.
Simonetta I, Tuttolomondo A, Daidone M, Pinto A.   +3 more
europepmc   +5 more sources

Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies [PDF]

Advances in Pharmacological and Pharmaceutical Sciences, 2021
The Anderson–Fabry disease is a rare, X-linked, multisystemic, progressive lysosomal storage disease caused by α-galactosidase A total or partial deficiency.
Cosimo A. Stamerra, Rita Del Pinto, Paolo di Giosia, Claudio Ferri, Amirhossein Sahebkar   +4 more
doaj   +2 more sources

Anderson-Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3 ...
Idalina Beirão MD, PhD, Ana Cabrita MD, Márcia Torres MD, Fernando Silva MD, Patricio Aguiar MD, Ana Marta Gomes MD   +5 more
doaj   +2 more sources

Role of standard echocardiography in Anderson–Fabry disease [PDF]

Frontiers in Cardiovascular Medicine
Cardiac involvement strongly impacts prognosis in patients with Anderson–Fabry disease (AFD). All cardiac structures, such as the left ventricle and the left atrium, the aorta, the right sections, and the heart valves can be affected by morphological and
Maddalena Conte, Giuseppe Cioffi, Maria Grazia Romeo, Laura Petraglia, Erika Parente, Paolo Poggio, Paolo Poggio, Veronika Myasoedova, Vincenzo Russo, Raffaella Lauro, Roberta Accardo, Dario Leosco, Valentina Parisi   +12 more
doaj   +2 more sources

Neurological complications of Anderson-Fabry disease [PDF]

Current Pharmaceutical Design, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +4 more sources