Results 71 to 80 of about 10,310 (200)
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
Fabry in the older patient: Clinical consequences and possibilities for treatment. [PDF]
, 2016 Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later life ...
Barbey, F +6 more
core +2 more sources
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
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]
, 2013 Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G +8 more
core
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
core +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 +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
No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]
, 2016 Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
core +1 more source