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Can Amyloid and Anderson-fabry Disease Have a CMR Overlap Syndrome?

Journal of Cardiovascular Magnetic Resonance
Saed Alnaimat, Mariah Mascara, MD, Abdallah Naser, MD, Marco Kaldas, MD, Victor Farah, MD, FSCMR, Moneal Shah, MD, FSCMR, Robert Biederman, MD, FSCMR   +6 more
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Treatment of Anderson-Fabry Disease

Current Pharmaceutical Design, 2020
Fabry 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 ...
Antonino Tuttolomondo, Antonio Pinto, Mario Daidone   +2 more
exaly   +3 more sources

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
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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

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
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

Genetics and Gene Therapy of Anderson-Fabry Disease [PDF]

Current Gene Therapy, 2018
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of
Antonino Tuttolomondo, Antonio Pinto, Tiziana Di Chiara   +2 more
exaly   +4 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

Gene Therapy of Anderson-Fabry Disease

Current Gene Therapy, 2019

Antonino Tuttolomondo, Antonio Pinto, Irène Simonetta   +2 more
exaly   +3 more sources