Results 41 to 50 of about 1,676 (150)

Cardiac Involvement in Anderson-Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2002
Anderson-Fabry disease results from hereditary deficiency of the lysosomal enzyme -galactosidase A. This disease is marked by progressive intracellular accumulation of globotriaosylceramide (Gb3) and digalactosylceramide, the major glycosphingolipid substrates of -galactosidase A.
Christoph, Kampmann, Frank, Baehner, Markus, Ries, Michael, Beck   +3 more
openaire   +2 more sources

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

Cardiac MRI Across ESC Guidance in the Last Decade

Clinical Cardiology, Volume 49, Issue 5, May 2026.
CMR: bridging clinical challenges to guideline solutions. Four panels summarise the role of cardiovascular magnetic resonance (CMR) in ESC guidance. Abbreviations: CMR = cardiovascular magnetic resonance. ESC = European Society of Cardiology. MINOCA = myocardial infarction with non‐obstructive coronary arteries. RV = right ventricle.
Alexander Gall, Nicholas Sawh, Rui Li, Peter P. Swoboda, Andrew J. Swift, Gareth Matthews, Pankaj Garg   +6 more
wiley   +1 more source

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

Anderson-Fabry disease in heart failure [PDF]

Biophysical Reviews, 2018
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms ...
M. M. Akhtar, P. M. Elliott
openaire   +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

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  

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

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

Unmasking Coronary Microvascular Dysfunction in Hypertrophic Cardiomyopathy: Multimodality Imaging With Stress Cardiac MRI and Coronary CT Angiography

Case Reports in Radiology, Volume 2026, Issue 1, 2026.
Coronary microvascular dysfunction (CMD) is a hallmark feature in hypertrophic cardiomyopathy (HCM), linked to significant clinical challenges including myocardial ischemia, fibrosis, and an elevated risk of heart failure and sudden cardiac death. In this case, a 21‐year‐old female presented with intermittent lower extremity edema, exertional dyspnea ...
Furkan Ufuk, Daniel P. Link
wiley   +1 more source