Results 141 to 150 of about 31,122 (181)

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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The heart in Anderson Fabry disease

Zeitschrift für Kardiologie, 2002
Anderson 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, Christiane M, Wiethoff, A, Perrot, Michael, Beck, Rainer, Dietz, Karl J, Osterziel   +5 more
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Anderson–Fabry disease management: role of the cardiologist

European Heart Journal
AbstractAnderson–Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM). Up to 1% of patients with a diagnosis of HCM indeed have AFD.
Maurizio Pieroni, Iacopo Olivotto, Robert J Desnick   +2 more
exaly   +5 more sources

Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy

Circulation, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Chuwa Tei, W J Mckenna, Perry M Elliott   +2 more
exaly   +1 more source

Anderson-Fabry disease*

British Journal of Dermatology, 2006
SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
Petar, Kes, Nikolina, Basić-Jukić, Bruna, Brunetta, Ivana, Jurić   +3 more
  +6 more sources

Anderson-Fabry disease in Austria

Wiener Klinische Wochenschrift, 2003
Fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism. The deficiency of alpha-galactosidase A leads to the deposition of glycosphingolipids primarily in lysosomes of blood vessel cells. In classically affected hemizygotes clinical manifestations include pain in the extremities, vessel ectasia (angiokeratoma) in skin and ...
Matthias, Lorenz, Anna-Christina, Hauser, Margot, Püspök-Schwarz, Peter, Kotanko, Ingrid, Arias, Herbert, Zodl, Reinhard, Kramar, Eduard, Paschke, Till, Voigtländer, Gere, Sunder-Plassmann   +9 more
openaire   +2 more sources

Anderson-Fabry Disease in Children

Current Pharmaceutical Design, 2013
Although clinical evidence of major organ damage is typical of adulthood, many of the signs and symptoms of Anderson Fabry Disease (AFD) occur frequently in childhood. The clinical phenotype of AFD in pediatric patients has been described in several studies which show a higher incidence and an earlier onset of symptoms in male patients than in females.
Simona, Sestito, Ferdinando, Ceravolo, Daniela, Concolino   +2 more
openaire   +2 more sources

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
openaire   +2 more sources

Anderson-Fabry Disease

2012
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Lai, KN, Chan, KW, Tang, S, Ho, YW, Tse, KC   +4 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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