Results 171 to 180 of about 57,841 (208)

Clinical study of left ventricular structure and function in patients with Anderson–Fabry disease before and after enzyme replacement therapy

Journal of Clinical Ultrasound, 2023
Cardiac left ventricular hypertrophy (LVH) is the most common manifestation of heart involvement in Anderson–Fabry disease (AFD). Conventional cardiac imaging is not sensitive enough to detect early signs of LVH in AFD.
Shuyue Huang, Jian Wang, Wei Zhang, Feng Gao, Yaodong Chen, Wen Shui, Xueqing Xing, Shuqiong Chen, Yixuan Mu   +8 more
semanticscholar   +1 more source

Anderson-Fabry disease.

2012
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Lai, KN, Chan, KW, Tang, S, Ho, YW, Tse, KC   +4 more
openaire   +3 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 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

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
openaire   +3 more sources

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
openaire   +2 more sources

Cardiac damage in Anderson–Fabry disease (clinical case)

Clinical review for general practice
The fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment.
O. V. Dimitrieva, Izolda V. Karzakova, Vadim E. Babokin, Larisa V. Tarasova, Aleksandra V. Dubova   +4 more
semanticscholar   +1 more source

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
openaire   +2 more sources

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, M. Gravina, Grazia Casavecchia, Rodolfo Belfiore, Benedetta Di Millo   +4 more
semanticscholar   +1 more source

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