Results 51 to 60 of about 10,281 (167)

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

A 15-year perspective of the fabry outcome survey [PDF]

, 2016
The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M, Giugliani, R, Hughes, D, Kampmann, C, Nicholls, K, Niu, DM, Pintos-Morell, G, Ramaswami, U, Schenk, JM, West, M   +9 more
core   +2 more sources

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

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease [PDF]

, 2014
BACKGROUND: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.
Antuzzi, D., Bembi, B., Benso, A., Carraro, G., Chimenti, C., Colla, L., Concolino, D., Cuonzo, M. T., Degennaro, E., Del Rosso, G., Diomedi, M., Feliciani, C., Feriozzi, S., Ficcadenti, A., Frustaci, A., Gnarra, M., Maccarone, M., Mancuso, M., Matucci, A., Mignani, R., Musumeci, B., Nencini, P., Parini, R., Piga, S., Pisani, A., Re, F., Salviati, A., Spada, M., Vultaggio, A., Zachara, E., Zedde, M. L., Zoli, P. G.   +31 more
core   +1 more source

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

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

The Role of Genetics in Stroke Risk and Outcome: A Review of Current Evidence

Brain and Behavior, Volume 15, Issue 10, October 2025.
This study delineates the multiple pathways leading to stroke, encompassing genetic risk factors such as lipid/cholesterol metabolism, blood pressure regulation genes, and endothelial dysfunction. The report includes genetic pathways such as Val66Met polymorphism, prothrombin G20210A, interleukin‐6 and tumor necrosis factor gene variant, along with ...
Mega Obukohwo Oyovwi, Benneth Ben‐Azu, Ejayeta Jeroh, Faith B. Friday   +3 more
wiley   +1 more source

Design Strategies for Novel Lipid Nanoparticle for mRNA Vaccine and Therapeutics: Current Understandings and Future Perspectives

MedComm, Volume 6, Issue 10, October 2025.
This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li, Junli Li, Jiazheng Wei, Weixin Du, Cheng Su, Xiaobin Shen, Aihua Zhao, Miao Xu   +7 more
wiley   +1 more source

Might Be Fabry Disease?

Turkish Journal of Internal Medicine, 2020
Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj  

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