Results 91 to 100 of about 62,873 (218)
A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI) [PDF]
, 2017 Parametric mapping techniques provide a non-invasive tool for quantifying tissue alterations in myocardial disease in those eligible for cardiovascular magnetic resonance (CMR).
Ferreira, Vanessa M. +9 more
core +2 more sources
Cardiomyocyte disintegration during Anderson–Fabry's disease [PDF]
European Heart Journal, 2009 A 65-year-old man was admitted to our hospital because of syncope. On examination he was haemodynamically stable. Laboratory findings revealed positive cardiac enzymes, and Holter registration demonstrated multiple episodes of non-sustained ventricular tachycardia. …
Robert, Dennert +2 more
openaire +2 more sources
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 +9 more
wiley +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 +7 more
wiley +1 more source
Indian Journal of Dermatology, 2001 A case of Anderson â€" Fabryâ€s disease presenting with cutaneous, ophthalmic and cardiological manifestations leading to death at an uncharacteristically early age is reported.
Coondoo Arijit +2 more
doaj
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
Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events [PDF]
, 2017 This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately ...
Beck, Michael +7 more
core +4 more sources
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 +4 more
wiley +1 more source
Anderson-Fabry, the histrionic disease: from genetics to clinical management
Cardiogenetics, 2013 Anderson-Fabry disease (AFD) is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A) enzyme. The disease may affect males and females, the latter with an average 10 years
Franco Cecchi +2 more
doaj +1 more source
Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
core +1 more source