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Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?
Rare Disease and Orphan Drugs JournalMajor organ involvement in Anderson-Fabry disease (FD) is clinically silent for a long period and clinically heterogeneous; thus, it is difficult to identify the patients at increasing risk of a progressive disorder.
P. Aguiar
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Gastroenterological Complications of Anderson-Fabry Disease
Current Pharmaceutical Design, 2013Fabry 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 +2 more
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Anderson-Fabry Disease and the Heart
Progress in Cardiovascular Diseases, 2010Anderson-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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Explainable AI Approach for Cardiac Involvement Detection in Anderson-Fabry Disease
International Conference on Data Technologies and Applications: Anderson-Fabry Disease (AFD) is a rare X-linked hereditary disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of globotriaosylceramide (Gb3) in multiple organs, including kidneys and the cardiovascular ...
Chiara Verdone +4 more
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#2556 Exploring exosome-mediated effects on renal pathology in Anderson Fabry disease
Nephrology, Dialysis and TransplantationDespite substantial progress in understanding the molecular basis of genetic lysosomal storage diseases, the systemic mechanisms linking lysosomal defects in specific cells to widespread organ damage remain unclear, particularly in Anderson-Fabry ...
L. Lenzini +11 more
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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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SHORT PR AND PRE–EXCITED QRS APPEARANCE – ANDERSON FABRY DISEASE OR ACCESSORY PATHWAY?
European Heart Journal, SupplementA 68-year-old woman comes to our attention for brief episodes of heart palpitation. History of Anderson-Fabry disease with cardiac involvement (hypertrophic phenotype with preserved left ventricular function), neurological, cutaneous and ocular in ...
E. Trovarelli +8 more
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Nephrology, Dialysis and Transplantation
Anderson–Fabry disease (AFD) is a genetic disorder due to mutations in the GLA gene that result in a deficiency of the enzymatic activity of a-galactosidase A and in a consequent accumulation of glycosphingolipids in various tissues and organs ...
Gemma Antonucci +7 more
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Anderson–Fabry disease (AFD) is a genetic disorder due to mutations in the GLA gene that result in a deficiency of the enzymatic activity of a-galactosidase A and in a consequent accumulation of glycosphingolipids in various tissues and organs ...
Gemma Antonucci +7 more
semanticscholar +1 more source
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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