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2008
Anderson-Fabry disease is a multisystemic lysosomal storage disorder due to a deficiency of α-galactosidase A resulting in an accumulation of neutral glycosphingolipids. Due to its rare occurrence the disease is often misdiagnosed or the correct diagnose is delayed for many years (Weidemann et al. 2008).
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Anderson-Fabry disease is a multisystemic lysosomal storage disorder due to a deficiency of α-galactosidase A resulting in an accumulation of neutral glycosphingolipids. Due to its rare occurrence the disease is often misdiagnosed or the correct diagnose is delayed for many years (Weidemann et al. 2008).
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The heart in Anderson Fabry disease
Zeitschrift für Kardiologie, 2002Anderson Fabry disease is a life threatening, X-linked inborn metabolic defect of the lysosomal enzyme áalpha-galactosidase A. The deficiency of alpha-galactosidase A leads to a progressive accumulation of globotriaosylceramide (Gb(3)), the major glycosphingolipid substrate of the enzyme, within vulnerable cells, tissues, and organs, including the ...
Christoph, Kampmann +5 more
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Misleading terms in Anderson‐Fabry disease
European Journal of Clinical Investigation, 2008ABSTRACTBackground Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs.Materials and methods Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized ...
F, Weidemann +7 more
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Anderson-Fabry's disease: Neuropathological and neurochemical investigation
Acta Neuropathologica, 1982A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated ictus with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or ...
Tagliavini, F. +5 more
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Heart, 2011
Objectives The prevalence of Anderson–Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation ...
Elliott P +27 more
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Objectives The prevalence of Anderson–Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation ...
Elliott P +27 more
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Renal involvement in Anderson-Fabry disease.
Journal of nephrology, 2003Anderson-Fabry disease (AFd) is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of the activity of alpha-galactosidase A (alpha-gal A). The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include ...
A. Sessa +8 more
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Achalasia in Anderson-Fabry's Disease
Journal of the Royal Society of Medicine, 1984D H, Roberts, I T, Gilmore
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Anderson-Fabry disease. Conclusion
Giornale di Tecniche Nefrologiche e Dialitiche, 2017Giovanni Duro, Marco Lombardi
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Anderson-Fabry disease. Introduction
Giornale di Tecniche Nefrologiche e Dialitiche, 2017Giovanni Duro, Marco Lombardi
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