Results 41 to 50 of about 1,670 (156)

Neurological Complications of Anderson-Fabry Disease [PDF]

Current Pharmaceutical Design, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seem to be less severely affected.
Antonino, Tuttolomondo, Rosaria, Pecoraro, Irene, Simonetta, Salvatore, Miceli, Valentina, Arnao, Giuseppe, Licata, Antonio, Pinto   +6 more
openaire   +3 more sources

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

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

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

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

Genetics and Gene Therapy of Anderson-Fabry Disease [PDF]

Current Gene Therapy, 2018
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of
Simonetta, I., Tuttolomondo, A., Di Chiara, T., Miceli, S., Vogiatzis, D., Corpora, F., Pinto, A.   +6 more
openaire   +3 more sources

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