Results 41 to 50 of about 10,271 (151)

Is it Fabry disease? Diagnostic and follow-up approach [PDF]

, 2016
A doença de Anderson-Fabry (DAF) é uma doença sistémica de sobrecarga lisossomal causada por mutações patogénicas do gene GLA (cromossoma X) que condicionam diminuição ou ausência α-galactosidase A e acumulação de globotriaosilceramida (Gb3) e outros ...
Aguiar, Patricio, Beirao, Idalina, Cabrita, Ana, Gomes, Ana Marta, Silva, Fernando, Torres, Marcia   +5 more
core   +2 more sources

Reduced coronary flow reserve in Anderson-Fabry disease measured by transthoracic Doppler echocardiography

Cardiovascular Ultrasound, 2005
Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional ...
Undas Anetta, Krzanowski Marek, Dimitrow Paweł   +2 more
doaj   +1 more source

Fabry-betegség – terápiás útmutató [PDF]

, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaozilceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba, Bereczki, Dániel, Bokrétás G, Constantin, Tamás, Dajnoki A, Erdős, Melinda, Fekete, György, Fiedler O, Garami, Miklós, Gulácsy V, Katona M, Kertész, Attila Béla, Kádár K, Kárpáti, Sarolta, Magyar, Pál, Mahdi, Mohamed, Maródi L, Medvecz, Márta, Molnár S, Müller, Veronika, Nagy V, Németh, Krisztina, Ponyi, Andrea, Rudas, Gábor, Rákóczi, Éva, Széchey R, Székely A, Tóth B, Varga, Edit, Vastagh, Ildikó   +29 more
core   +2 more sources

La diagnosi precoce di malattia

Giornale di Clinica Nefrologia e Dialisi, 2019
Anderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha-Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide
Federica Rossi, Federico Pieruzzi
doaj   +1 more source

Clinical and Pathological Findings in Women with Fabry Disease [PDF]

, 2009
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH, Chu, ACY, Ho, JWM, Ho, PWL, Ho, SL, Kung, MHW, Kwok, KHH, Liu, HF, Ramsden, David   +8 more
core   +1 more source

Cognitive impairment and Fabry Disease: a case report with mutation S126G [PDF]

Neuropsychological Trends, 2016
Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a glycosphingolipid metabolism due to the reduction or absence of Alpha-galactosidase, an enzyme
Razza, Grazia, Spadaro, Daniela, Giordano, Antonello, Scalia, Simone, Colomba, Paolo, Zizzo, Carmela, Duro, Giovanni, Iemolo, Francesco   +7 more
doaj   +1 more source

Background-deflection Brillouin microscopy reveals altered biomechanics of intracellular stress granules by ALS protein FUS [PDF]

, 2018
Altered cellular biomechanics have been implicated as key photogenic triggers in age-related diseases. An aberrant liquid-to-solid phase transition, observed in in vitro reconstituted droplets of FUS protein, has been recently proposed as a possible ...
Antonacci, Giuseppe, DE TURRIS, Valeria, Rosa, Alessandro, Ruocco, Giancarlo   +3 more
core   +3 more sources

Come from away: Reconstructing a long‐range migratory flight of spruce budworm moths to Newfoundland, Canada Venues de loin : reconstitution d'un vol migratoire de longue distance de tordeuses des bourgeons de l'épinette vers Terre‐Neuve, au Canada

Ecological Entomology, Volume 51, Issue 1, Page 41-58, February 2026.
Lagrangian atmospheric models were used in conjunction with ecophysiological factors to reconstruct the path and meteorological conditions of a long‐range migration flight of spruce budworm moths to Newfoundland, Canada. Moths travelled under high winds and warm temperatures that favoured their migratory flight until encountering cooler temperatures ...
Philippe Barnéoud, Jennie Pearce, Alain Malo, Jean‐Noël Candau   +3 more
wiley   +1 more source

Gene therapy in Anderson-Fabry disease. State of the art and future perspectives

Cardiogenetics, 2020
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello, Federica Verrillo, Riccardo Ricciolino, Dario Prozzo, Andrea Tuccillo, Martina Caiazza, Marta Rubino   +6 more
doaj   +1 more source

Genetic variants associated with gastrointestinal symptoms in Fabry disease. [PDF]

, 2016
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A.
Agapito, Giuseppe, Altomare, Federica, Arbitrio, Mariamena, Borrelli, Osvaldo, Concolino, Daniela, Di Martino, Maria Teresa, Guzzi, Pietro Hiram, Nicoletti, Angela, Pensabene, Licia, Pisani, Antonio, Riccio, Eleonora, Sanseviero, Maria Teresa, Scionti, Francesca, Sestito, Simona, Talarico, Valentina   +14 more
core   +1 more source