Results 171 to 180 of about 62,873 (218)

Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy

Heart, 2021
Objectives To evaluate the role of the ECG in the differential diagnosis between Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM). Methods In this multicentre retrospective study, 111 AFD patients with left ventricular hypertrophy were ...
G. Vitale, R. Ditaranto, F. Graziani, I. Tanini, A. Camporeale, R. Lillo, M. Rubino, E. Panaioli, F. Di Nicola, V. Ferrara, R. Zanoni, A. Caponetti, F. Pasquale, M. Graziosi, A. Berardini, M. Ziacchi, M. Biffi, M. Santostefano, R. Liguori, N. Taglieri, E. Nardi, A. Linhart, I. Olivotto, C. Rapezzi, E. Biagini   +24 more
semanticscholar   +1 more source

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

Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry.

Molecular Genetics and Metabolism, 2023
BACKGROUND Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease due to a genetic variation in the α-galactosidase A (GLA) gene. As a result, the activity of the α-galactosidase A (AGAL-A) enzyme is reduced or absent, which causes ...
D. Alkhatib, J. Vega, I. Pour-Ghaz, O. Al-Taweel, S. Khan, Kimberly Decarr, A. Bath, A. Rawal, David Wilbanks, Joel Mukesh Raja, A. Butt, N. Yedlapati, R. Hopkin, J. Jefferies   +13 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

Electrocardiogram evolution in Anderson-Fabry disease patients during follow-up in relation to specific treatment and cardiac disease progression.

International Journal of Cardiology
AIMS Electrocardiogram (ECG) analysis plays a central role in Anderson-Fabry disease (AFD) diagnosis and management. This study aimed to assess ECG evolution during follow-up in relation to specific treatment and disease progression.
V. Parisi, R. Ditaranto, N. Taglieri, F. Di Nicola, R. Baldassarre, M. Schiavo, E. Nardi, R. Lillo, M. C. Meucci, A. Cianci, F. Re, G. Marchi, E. Monda, Irene Capelli, Vincenzo Donadio, F. Cappelli, I. Salamon, J. G. Blanes, D. Girelli, F. Pasquale, Mauro Biffi, R. Mignani, Francesca Graziani, N. Galiè, G. Limongelli, I. Olivotto, E. Biagini   +26 more
semanticscholar   +1 more source

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

Ventricular arrhythmias and primary prevention of sudden cardiac death in Anderson-Fabry disease.

International Journal of Cardiology
The Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder due to the deficiency in the α-galactosidase A enzyme. Cardiovascular mortality is a major cause of death in patients with AFD and sudden cardiac death (SCD) is one of the main ...
S. Piccolo, Matteo Casal, V. Rossi, Francesca Ferrigni, A. Piccoli, B. Bolzan, Martina Setti, Caterina Butturini, Giovanni Benfari, Valeria Ferrero, E. Franchi, L. Tomasi, F. Ribichini, G. Mugnai   +13 more
semanticscholar   +1 more source

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