Results 31 to 40 of about 1,676 (150)
Journal of the American Society of Nephrology, 2002 The advent of enzyme replacement therapy for Anderson-Fabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell ...
Edwin H, Kolodny, Gregory M, Pastores
openaire +2 more sources
Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up
Revista Portuguesa de Cardiologia, 2014 Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically
Dulce Brito +4 more
doaj +1 more source
А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease [PDF]
Българска кардиологияAnderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of the heart, kidney and brain ...
M. Dimova +4 more
doaj +3 more sources
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
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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
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
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
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
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
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