Results 1 to 10 of about 62,834 (188)

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   +5 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   +6 more sources

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

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 ...
Simonetta I, Tuttolomondo A, Daidone M, Pinto A.   +3 more
europepmc   +6 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   +3 more sources

Cardiac involvement in Anderson–Fabry disease. The role of advanced echocardiography [PDF]

Frontiers in Cardiovascular Medicine
Anderson–Fabry disease (AFD) is a lysosomal storage disorder, depending on defects in alpha galactosidase A activity, due to a mutation in the galactosidase alpha gene. Cardiovascular involvement represents the leading cause of death in AFD.
Letizia Spinelli, Antonio Bianco, Eleonora Riccio, Antonio Pisani, Guido Iaccarino, Guido Iaccarino   +5 more
doaj   +3 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   +3 more sources

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement [PDF]

Diagnostics
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-galactosidase A (α-GAL A).
Annamaria Iorio, Fabiana Lucà, Andrea Pozzi, Carmelo Massimiliano Rao, Cristina Chimenti, Stefania Angela Di Fusco, Roberta Rossini, Giorgio Caretta, Stefano Cornara, Simona Giubilato, Irene Di Matteo, Concetta Di Nora, Anna Pilleri, Sandro Gelsomino, Roberto Ceravolo, Carmine Riccio, Massimo Grimaldi, Furio Colivicchi, Fabrizio Oliva, Michele Massimo Gulizia, the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)   +20 more
doaj   +3 more sources

The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient [PDF]

Clinical Case Reports
Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns.
Yasmine Elsherif, Ismail A. Ibrahim, Omar Elsherif, Hana J. Abukhadijah   +3 more
doaj   +3 more sources

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies. [PDF]

Front Cardiovasc Med, 2023
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 progressive multi-system disorder, infiltrative cardiomyopathy causing a number of ...
Averbuch T, White JA, Fine NM.
europepmc   +2 more sources