Results 161 to 170 of about 10,310 (200)
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Enzyme replacement in Anderson-Fabry disease
The Lancet, 2003Bengtsson, Bengt-Ake +4 more
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Treatment of Anderson-Fabry Disease
Current Pharmaceutical Design, 2020Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs ...
Irene Simonetta +4 more
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Anderson-Fabry Disease in Children
Current Pharmaceutical Design, 2013Although 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 +2 more
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Anderson-Fabry disease in Austria
Wiener Klinische Wochenschrift, 2003Fabry 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 +9 more
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Cutaneous Complications of Anderson-Fabry Disease
Current Pharmaceutical Design, 2013Anderson-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 +2 more
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Granulomatous Gingivitis in Anderson‐Fabry Disease
Journal of Periodontology, 1980The 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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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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