Results 111 to 120 of about 1,670 (156)

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. [PDF]

Int J Mol Sci
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T.   +19 more
europepmc   +1 more source

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism. [PDF]

Cells
Zedde M, Romani I, Scaravilli A, Cocozza S, Trojano L, Ragno M, Rifino N, Bersano A, Gerevini S, Pantoni L, Valzania F, Pascarella R.   +11 more
europepmc   +1 more source

Isolated ‘cardiac Variant’ of Anderson-fabry Disease Diagnosed by CMR

Journal of Cardiovascular Magnetic Resonance
Husna Mohd Zaki, Zeyad Elmarzouky, MD, Riham Elbialy, Ihab Abdelgawwad, Omar Tawfik, Safa Daghem, Iwan Harries, PhD, Mark Hamilton, Gergely Szantho, MD, Eva Sammut, Nathan Manghat   +10 more
doaj   +1 more source

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
doaj   +1 more source

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Anderson–Fabry disease management: role of the cardiologist

European Heart Journal
AbstractAnderson–Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM). Up to 1% of patients with a diagnosis of HCM indeed have AFD.
Robert Desnick, , Maurizio Pieroni
exaly   +5 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
  +6 more sources

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 ...
Irene Simonetta, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli, Antonio Pinto   +4 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 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