Results 1 to 10 of about 10,310 (200)
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 +6 more
doaj +5 more sources
Anderson–Fabry Disease: Focus on Ophthalmological Implications [PDF]
LifeFabry 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 +7 more
doaj +4 more sources
Right atrial strain in Anderson–Fabry disease [PDF]
Frontiers in Cardiovascular MedicineBackgroundTo 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 +15 more
doaj +4 more sources
The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient [PDF]
Clinical Case ReportsKey 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 +3 more
doaj +3 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 +5 more
core +6 more sources
Reduced coronary flow reserve in Anderson-Fabry disease measured by transthoracic Doppler echocardiography [PDF]
Cardiovascular Ultrasound, 2005 Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional ...
Undas Anetta +2 more
doaj +4 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 +3 more
europepmc +5 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 +8 more
doaj +2 more sources
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 +5 more
doaj +2 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 +4 more
doaj +2 more sources