Results 31 to 40 of about 1,670 (156)
ANDERSON-FABRY DISEASE: MANIFESTATION AND PROGNOSIS
Український Журнал Нефрології та Діалізу, 2017 The aim of the study was to describe diagnostic and treatment experience of Fabry disease in Ukraine, rare inherited multisystem metaboliс disorder with chronic kidney insufficiency as one of signs.
N. O. Pichkur
doaj +1 more source
Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation
Case Reports in Cardiology, 2018 Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a ...
K. Selthofer-Relatic
doaj +1 more source
Cardiovascular Ultrasound, 2005 Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional ...
Undas Anetta +2 more
doaj +1 more source
Cardiac damage in Anderson–Fabry disease (clinical case)
Клинический разбор в общей медицинеThe fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment.
Olga V. Dimitrieva +10 more
doaj +1 more source
La diagnosi precoce di malattia
Giornale di Clinica Nefrologia e Dialisi, 2019 Anderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha-Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide
Federica Rossi, Federico Pieruzzi
doaj +1 more source
Don't Sweat It: Cannabinoid CB1 Receptors Reduce Sweating in a Mouse Model
The FASEB Journal, Volume 40, Issue 12, 30 June 2026.A new galvanic skin response‐based approach offers a simple method for measuring sweating in the paws of mice. This method is used to demonstrate that cannabinoid CB1 receptors reduce baseline sweating in mice, likely via inhibition of sympathetic acetylcholine release via axonal CB1 receptors.
Natalia Murataeva +3 more
wiley +1 more source
Cognitive impairment and Fabry Disease: a case report with mutation S126G [PDF]
Neuropsychological Trends, 2016 Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a glycosphingolipid metabolism due to the reduction or absence of Alpha-galactosidase, an enzyme
Razza, Grazia +7 more
doaj +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
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
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