Results 51 to 60 of about 10,310 (200)

Speckle Tracking Echocardiography for Global Longitudinal Strain—Have Modern Strain Packages Improved Reproducibility?

Sonography, Volume 13, Issue 1, March 2026.
ABSTRACT Introduction Speckle tracking strain imaging has become a routine part of echocardiography. However, despite the efforts of multiple associations and industry, there has been variation in results between vendors. We aimed to determine if modern strain analysis yielded results with improved reproducibility.
Rebecca Perry, Emilie Rasheed, Kaylene Gluyas, Majo Joseph   +3 more
wiley   +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

Fabry-betegség - Diagnosztikai útmutató [PDF]

, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaosylceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba, Bereczki, Dániel, Bokrétás G, Constantin, Tamás, Dajnoki A, Erdős, Melinda, Fekete, György, Fiedler O, Garami, Miklós, Katona M, Kertész, Attila Béla, Kádár K, Kárpáti, Sarolta, Magyar, Pál, Mahdi, Mohamed, Maródi, László, Medvecz, Márta, Molnár, Sándor, Müller, Veronika, Nagy, Viktor, Németh K, Ponyi, Andrea, Rudas, Gábor, Rákóczi, Éva, Széchey R, Tóth, Beáta, Varga, Edit, Vastagh, Ildikó   +27 more
core   +2 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

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art

Diagnostics, 2023
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several ...
Andrea Ponsiglione, Marco De Giorgi, Raffaele Ascione, Carmela Nappi, Luca Sanduzzi, Antonio Pisani, Serena Dell’Aversana, Alberto Cuocolo, Massimo Imbriaco   +8 more
doaj   +1 more source

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

Oceanography and Pacific Oyster Biochemical Composition in a Novel Oyster‐Growing Region

Aquaculture, Fish and Fisheries, Volume 5, Issue 5, October 2025.
ABSTRACT The farming of Pacific oysters (Crassostrea [Magallana] gigas) is a rapidly growing industry in Alaska, where farms represent some of the highest latitude oyster cultivation efforts in the world. Little is known about the nearshore oceanography where Alaskan farms are located, or how the subarctic marine context influences oyster tissue ...
Rebecca Cates, Juliana Cornett, Courtney Hart, Cody Pinger, John Harley, Kate Laboda, Kelly Koehler, Muriel Dittrich, Jordan Hollarsmith   +8 more
wiley   +1 more source