Results 121 to 130 of about 1,670 (156)

Anderson-Fabry Disease and the Heart

Progress in Cardiovascular Diseases, 2010
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. The ensuing enzyme deficiency results in intracellular accumulation of neutral glycosphingolipids (primarily globotriaosylceramide) and progressive renal, cardiac, and cerebrovascular disease.
Constantinos, O'Mahony, Perry, Elliott
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Cutaneous Complications of Anderson-Fabry Disease

Current Pharmaceutical Design, 2013
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α-galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body ...
Giuseppe, Pistone, Daniele, Rizzo, Rita, Bongiorno Maria   +2 more
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Anderson-Fabry Disease

2012
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Lai, KN, Chan, KW, Tang, S, Ho, YW, Tse, KC   +4 more
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Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey

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, Baker R, PASQUALE, FERDINANDO, Quarta G, Ebrahim H, Mehta AB, Hughes DA, ACES study group, Anastasakis A, Autore C, Musumeci MB, Frenneaux M, Gimeno J, Tiina H, Kuusisto J, Aalto Setäla K, McKeown P, Monserrat L, Fernandez X, Pacileo G, Limongelli G, RAPEZZI, CLAUDIO, BIAGINI, ELENA, Cate FJ, Wilde AA, Pinto YM, Christiaans I, Zachara E.   +27 more
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Gastroenterological Complications of Anderson-Fabry Disease

Current Pharmaceutical Design, 2013
Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alpha-galactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations.
Piotr, Buda, Janusz, Książyk, Anna, Tylki-Szymanska   +2 more
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Renal involvement in Anderson-Fabry disease

Journal of Nephrology, 2003
  Anderson-Fabry disease (AFd) is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of the activity of α-galactosidase A (α-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 ...
A. Sessa, M. Meroni, G. Battini, M. Righetti, A. Maglio, A. Tosoni, M. Nebuloni, G. Vago, F. Giordano   +8 more
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Misleading terms in Anderson‐Fabry disease

European Journal of Clinical Investigation, 2008
ABSTRACTBackground  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, J M, Strotmann, F, Breunig, M, Niemann, R, Maag, R, Baron, A O, Eggert, C, Wanner   +7 more
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Granulomatous Gingivitis in Anderson‐Fabry Disease

Journal of Periodontology, 1980
The patient is suffering from Anderson‐Fabry disease. This was documented by family history, clinical findings, histochemical and electronmicroscopic demonstration of ceramide in the blood vessels, and enzyme studies. The patient, at age 17, developed a unique gingival enlargement, gingivitis granulomatosa, a cobbled tongue, glossitis granulomatosa ...
W G, Young, B L, Pihlstrom, J J, Sauk
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Anderson-Fabry Disease

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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Achalasia in Anderson-Fabry's Disease

Journal of the Royal Society of Medicine, 1984
D H, Roberts, I T, Gilmore
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