Results 81 to 90 of about 5,515,441 (177)

The gatekeeper images in hypertrophic cardiomyopathy: the role of native T1 mapping in Anderson-Fabry disease

Monaldi Archives for Chest Disease
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease.
Marzia Testa, Eleonora Indolfi, Guido Pastorini, Enrica Conte, Mauro Feola   +4 more
doaj   +1 more source

Treatment patterns, outcomes and healthcare resource utilization of obstructive hypertrophic cardiomyopathy in England

ESC Heart Failure, Volume 12, Issue 3, Page 2034-2046, June 2025.
Abstract Aims Describe patient characteristics, treatment patterns, clinical outcomes, healthcare resource utilization (HCRU) and medical costs associated with patients who were diagnosed with obstructive hypertrophic cardiomyopathy (HCM) in clinical practice in England.
Faizel Osman, Carla L. Zema, Michael Hurst, Belinda Sandler, Florence Brellier, Ovie Utuama, Oksana Kirichek, John Houghton, Teresa Lemmer, Maite Tome Esteban   +9 more
wiley   +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

Free‐Breathing Ungated Radial Simultaneous Multi‐Slice Cardiac T1 Mapping

Journal of Magnetic Resonance Imaging, Volume 61, Issue 6, Page 2587-2600, June 2025.
Background Modified Look‐Locker imaging (MOLLI) T1 mapping sequences are acquired during breath‐holding and require ECG gating with consistent R‐R intervals, which is problematic for patients with atrial fibrillation (AF). Consequently, there is a need for a free‐breathing and ungated framework for cardiac T1 mapping.
Johnathan V. Le, Jason K. Mendes, Konstantinos Sideris, Erik Bieging, Spencer Carter, Josef Stehlik, Edward V. R. DiBella, Ganesh Adluru   +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

Clinical prodromes of neurodegeneration in Anderson-Fabry disease [PDF]

, 2015
To estimate the prevalence of prodromal clinical features of neurodegeneration in patients with Anderson-Fabry disease (AFD) in comparison to age-matched ...
Hughes, D, Reichmann, H, Milligan, A, Mehta, A, Löhle, M, Richfield, L, Schapira, AH   +6 more
core  

Integrative Systems Biology Investigation of Fabry Disease

Diseases, 2016
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3).
Marco Fernandes, Holger Husi
doaj   +1 more source

Cutaneous manifestations of Fabry disease: A systematic review

The Journal of Dermatology, Volume 52, Issue 4, Page 571-582, April 2025.
Abstract Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This
Rami Nabil Al‐Chaer, Mathias Folkmann, Nina Løth Mårtensson, Ulla Feldt‐Rasmussen, Mette Mogensen   +4 more
wiley   +1 more source

Thomas Anderson Oral History Interview [PDF]

, 2000
Major Topics Covered: Anderson family involvement with MD Anderson and the Texas medical Center Personal recollections of R. Lee Clark, Ernst Bertner, Charles LeMaistre, John Mendelsohn and other MD Anderson figures The origins of MD Anderson and other
Anderson, Thomas Dunaway, Marchiafava, Louis J., PhD   +1 more
core  

Anderson-Fabry disease: Worthy to in-SPECT the nerves? [PDF]

Journal of Nuclear Cardiology, 2021
Massalha, Samia, Slart, Riemer H. J. A.
openaire   +3 more sources