Results 51 to 60 of about 9,399,207 (308)
Pharmacology & Therapeutics, 2009 Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction ...
Frank Gaillard +2 more
openaire +4 more sources
Polycystic kidney disease complicates renal pathology in a family with Fabry disease
Molecular Genetics and Metabolism Reports, 2022 Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease is a renal condition in which cysts are found, which have a different presentation ...
Leepakshi Johar +7 more
doaj +1 more source
Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report [PDF]
Терапевтический архив, 2023 FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme ...
Olga V. Mashkunova +3 more
doaj +1 more source
Internal Medicine, 1992 A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells.
H, Kato +5 more
openaire +3 more sources
A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]
Kidney Research and Clinical Practice, 2023 Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi +11 more
doaj +1 more source
Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.
PLoS ONE, 2014 A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk.
Nurcan Uçeyler +7 more
doaj +1 more source
Fabry Disease Therapy: State-of-the-Art and Current Challenges
International Journal of Molecular Sciences, 2020 Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the GLA gene that lead to a deficiency of the enzymatic activity of α-galactosidase A.
O. Azevedo +4 more
semanticscholar +1 more source
Fabry cardiomyopathy presenting with a high defibrillation threshold: A short case report
Journal of Arrhythmia, 2015 Fabry disease is an X-linked recessive glycosphingolipid storage disorder caused by a deficiency of lysosomal enzyme α-galactosidase A. It is recognized that Fabry disease patients often have ventricular arrhythmias.
Takashi Kanda, MD +10 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease, stroke, end ...
Ben Haycroft +6 more
doaj +1 more source
Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease
Circulation Cardiovascular Imaging, 2020 Supplemental Digital Content is available in the text. Background: Cardiovascular magnetic resonance can demonstrate myocardial processes in Fabry disease (FD), such as low native T1 (sphingolipid storage) and late gadolinium enhancement (LGE, scar ...
J. Augusto +17 more
semanticscholar +1 more source