Results 11 to 20 of about 31,072 (153)
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
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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 +3 more
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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
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Indian Journal of Dermatology, 2001 A case of Anderson â€" Fabryâ€s disease presenting with cutaneous, ophthalmic and cardiological manifestations leading to death at an uncharacteristically early age is reported.
Coondoo Arijit +2 more
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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
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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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Cardiac involvement in Anderson–Fabry disease. The role of advanced echocardiography [PDF]
Frontiers in Cardiovascular MedicineAnderson–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 +5 more
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A Non-Invasive Technique to Unveil Renal Implications in Anderson–Fabry Disease [PDF]
BiomedicinesBackground: Anderson–Fabry disease (AFD) is a rare genetic disorder characterized by a deficiency of α-galactosidase A activity and the accumulation of glycosphingolipids in tissues, which leads to multiorgan damage.
Matteo Gravina +11 more
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А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease [PDF]
Българска кардиологияAnderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of the heart, kidney and brain ...
M. Dimova +4 more
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