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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   +3 more sources

Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future. [PDF]

J Clin Med, 2021
Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphin-golipids in several tissues and multi-organ progressive dysfunction.
Esposito R, Santoro C, Mandoli GE, Cuomo V, Sorrentino R, La Mura L, Pastore MC, Bandera F, D'Ascenzi F, Malagoli A, Benfari G, D'Andrea A, Cameli M.   +12 more
europepmc   +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), including the skin, kidneys, nervous system, and heart, thereby triggering inflammation and fibrosis ...
Antonino, Tuttolomondo, Rosaria, Pecoraro, Irene, Simonetta, Salvatore, Miceli, Antonio, Pinto, Giuseppe, Licata   +5 more
openaire   +4 more sources

Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Revista Médica del Hospital General de México, 2018
Anderson–Fabry disease is the second most common lysosomal storage disease after Gaucher disease. It is an X-linked lysosomal disorder that causes a deficiency in alpha-galactosidase, leading to the accumulation of globotriaosylceramide (Gb3) in the ...
A.L. Mena Rodríguez, M.V. Soto Abraham, M.Y. Valdespino Vázquez, B. de León Garza   +3 more
doaj   +2 more sources

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation [PDF]

Case Reports in Cardiology, 2018
Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a ...
K. Selthofer-Relatic
doaj   +2 more sources

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, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini   +9 more
doaj   +2 more sources

Anderson-Fabry′s Disease

Indian Journal of Dermatology, 2001
A case of Anderson â€" Fabry’s disease presenting with cutaneous, ophthalmic and cardiological manifestations leading to death at an uncharacteristically early age is reported.
Coondoo Arijit, Banerjee Raghubir, Ghosh Arghyaprasun   +2 more
doaj   +1 more source

ANDERSON-FABRY DISEASE: MANIFESTATION AND PROGNOSIS

Український Журнал Нефрології та Діалізу, 2017
The aim of the study was to describe diagnostic and treatment experience of Fabry disease in Ukraine, rare inherited multisystem metaboliс disorder with chronic kidney insufficiency as one of signs.
N. O. Pichkur
doaj   +3 more sources

An Unusual Case of Anderson-Fabry Disease: Case Report [PDF]

JMIR Dermatology
Angiokeratoma 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, Achala Mohta, Pramila Kumari   +2 more
doaj   +2 more sources

Transcatheter Edge-to-Edge Mitral Valve Repair in a Patient With Anderson-Fabry Disease [PDF]

JACC: Case Reports
Severe 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, Jason Sharp, MBBS, Dennis Wang, MBBS, Tuan Nguyen-Dang, MD, Jorge Moragues, MD, Edward J.F. Danson, BMBCh, MA(Oxon), DPhil(Lond)   +5 more
doaj   +2 more sources