Results 41 to 50 of about 31,072 (153)
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 +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 +6 more
wiley +1 more source
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 +8 more
doaj +1 more source
, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A +32 more
core +1 more source
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 +3 more
wiley +1 more source
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 +3 more
wiley +1 more source
Evolution of renal pathology in Fabry disease
, 2003 Fabry disease is a rare lysosomal storage disorder which results from deficient activity of the enzyme alpha-galactosidase A. The resultant deposition and progressive accumulation of glycosphingolipids in all types of body tissue leads to severe clinical
M. Meroni +7 more
core +1 more source
Neurological complications of Anderson-Fabry disease [PDF]
, 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 ...
Simonetta I +6 more
core +1 more source
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 +12 more
wiley +1 more source
, 2011 The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with ...
Mehta, Atul B +18 more
core +1 more source