Results 21 to 30 of about 10,310 (200)

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement [PDF]

Diagnostics
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A).
Annamaria Iorio, Fabiana Lucà, Andrea Pozzi, Carmelo Massimiliano Rao, Cristina Chimenti, Stefania Angela Di Fusco, Roberta Rossini, Giorgio Caretta, Stefano Cornara, Simona Giubilato, Irene Di Matteo, Concetta Di Nora, Anna Pilleri, Sandro Gelsomino, Roberto Ceravolo, Carmine Riccio, Massimo Grimaldi, Furio Colivicchi, Fabrizio Oliva, Michele Massimo Gulizia, the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)   +20 more
doaj   +2 more sources

Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease [PDF]

Journal of Cardiovascular Development and Disease
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality.
Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva, Mikhail Gordeev   +9 more
doaj   +2 more sources

Anderson-Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2002
The advent of enzyme replacement therapy for Anderson-Fabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell ...
Edwin H, Kolodny, Gregory M, Pastores
openaire   +2 more sources

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Nefrología, 2023
Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

Nefrología (English Edition), 2023
Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Exosomal miRNAs as Biomarkers of Ischemic Stroke

Brain Sciences, 2023
Exosomes are small lipid bilayer membrane particles released from all living cells into the extracellular environment. They carry several molecules and have a critical role in cell–cell communication under physiological and pathological conditions.
Anna Maria Ciaccio, Antonino Tuttolomondo   +1 more
doaj   +1 more source

Pathogenesis and Molecular Mechanisms of Anderson-Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. [PDF]

Int J Mol Sci, 2021
Tuttolomondo A, Simonetta I, Riolo R, Todaro F, Di Chiara T, Miceli S, Pinto A.   +6 more
europepmc   +2 more sources

Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]

, 2014
Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E, Feriozzi S, Giannakakis K, Gomes VV, MASSARI, ANNALISA, Ranalli TV   +5 more
core   +1 more source

Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C

Revista Portuguesa de Cardiologia, 2014
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene, which encodes the enzyme α-galactosidase A. A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids, which may cause ...
Francisca Caetano, Ana Botelho, Paula Mota, Joana Silva, António Leitão Marques   +4 more
doaj   +1 more source