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
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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
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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
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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
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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
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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
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Role of standard echocardiography in Anderson–Fabry disease [PDF]
Frontiers in Cardiovascular MedicineCardiac 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 +12 more
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Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease [PDF]
CellsAnderson–Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient α-galactosidase A activity and progressive accumulation of globotriaosylceramide (Gb3) and its derivative lyso-Gb3
Irene Simonetta +2 more
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Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease? [PDF]
Biomedicines, 2022 Anderson–Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by a composite and multisystemic clinical phenotype and frequent involvement of the central nervous system (CNS).
Marialuisa Zedde +6 more
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Pathologic substrate of gastropathy in Anderson-Fabry disease [PDF]
Orphanet Journal of Rare Diseases, 2020 In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate.
Alessandro Di Toro +9 more
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