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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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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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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An Unusual Case of Anderson-Fabry Disease: Case Report [PDF]
JMIR DermatologyAngiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease;
Alpana Mohta +2 more
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Transcatheter Edge-to-Edge Mitral Valve Repair in a Patient With Anderson-Fabry Disease [PDF]
JACC: Case ReportsSevere degenerative mitral regurgitation (DMR) is one cardiac manifestation of the multiorgan metabolic enzyme disorder Anderson-Fabry Disease (AFD). Although DMR is normally managed surgically, many patients with AFD are unsuitable for this.
Mohamed Elwashahy, MD +5 more
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