Results 51 to 60 of about 31,072 (153)

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  

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

Cutaneous complications of Anderson-Fabry disease

, 2013
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α-galactosidase A.
Rita, Bongiorno Maria, Giuseppe, Pistone, Daniele, Rizzo   +2 more
core   +1 more source

Anderson-Fabry disease: a multiorgan disease. [PDF]

, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
PINTO, Antonio, TUTTOLOMONDO, Antonino, Simonetta I: Miceli S, LICATA, Giuseppe, Pecoraro R   +4 more
core   +1 more source

Senza una multidisciplinarietà organizzata

Giornale di Clinica Nefrologia e Dialisi, 2017
non disponibile (aiaf)
Roberto Fanelli, Marco Lombardi, Stefano Michelassi, Carmela Zizzo, Giovanni Duro   +4 more
doaj   +1 more source

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

Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics

, 2016
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract.
Marini, Massimiliano, Giorgianni, Carmela, Smirnova, Alexandra, Zedde, M, Agozzino, Manuela, Vassallo, Camilla, Pellegrini, Carlo, Sechi, G, Di Mascio, Mt, ANTONIAZZI, ELENA ROSA, Ganau, A, Melis, Maurizio, Piga, Stefania, RASURA, Maurizia, Tavazzi, L, Ghio, Stefano, Biagini, E, Concardi, Monica, Ganau, Antonello, Antoniazzi, Elena, Rapezzi, Claudio, Biagini, Elena, Tagliani, M, Mancuso, M, Antoniazzi, E, Giuliani, Lorenzo, Borroni, Riccardo G., Kodama, Takahide, Zedde, Marialuisa, Scoditti, Umberto, Narula, Nupoor, Giordano, C, Fancellu, L, Colucci, Annarita, Diomedi, M, Kodama, T, Piga, S, Rasura, M, Scoditti, U, Molinaro, Mariadelfina, Arbustini, E., Mangione, Filippo, DI MASCIO, MARIA TERESA, Diomedi, Marina, Caspani, C, Molinaro, M, Narula, Jagat, Scarabotto, Anna, Toni, D, Arbustini, E, Guidetti, Donata, Serio, Alessandra, Cassini, Pamela, Nucera, A, Sechi, Gianpietro, Pellegrini, C, Borroni, Rg, TONI, Danilo, Ghio, S, Colucci, A, Narula, N, Concolino, D, Smirnova, A, Nucera, Antonia, Narula, J, Disabella, E, MARINI, MASSIMILIANO LUIGI IVO, Caspani, Clelia, Concolino, Daniela, Scelsi, L, Grasso, M, Giorgianni, C, Concardi, M, Agozzino, M, Favalli, V, Scelsi, Laura, Giuliani, L, Marini, M, Fancellu, Laura, Scarabotto, A, Melis, M, Grasso, Maurizia, Rapezzi, C, Borroni, Riccardo G, Vassallo, C, Tagliani, Marilena, Cassini, P, Favalli, Valentina, Arbustini, Eloisa, Mangione, F, Disabella, Eliana, Guidetti, D, Tavazzi, Luigi, Serio, A, Giordano, Calogero, Mancuso, Michelangelo   +95 more
core   +1 more source

Enzyme replacement therapy for Anderson-Fabry disease.

, 2013
Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement.
Paulo Nascimento, Regina P El Dib, Nascimento, Paulo, Pastores, Gregory M, Dib, Regina Paolucci El, Dib, Regina Paolucci El [UNESP], Gregory M Pastores   +6 more
core   +1 more source

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

Orphanet Journal of Rare Diseases, 2009
Background In Fabry disease (α-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death.
Hoffmann Björn
doaj   +1 more source