Results 31 to 40 of about 16,061 (232)
Gene Editing in Fabry Disease: A Strategy Delineation [PDF]
, 2022 Oral presentation by first authorThe use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases.
Moreira, Luciana +3 more
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Corneal confocal microscopy detects neuropathy in patients with Fabry disease [PDF]
, 2008 Purpose: Neuropathy is a cause of significant disability in\ud patients with Fabry disease, yet its diagnosis is difficult. We have compared the novel non-invasive techniques of corneal confocal microscopy (CCM) and non-contact corneal aesthesiometry ...
Marshall, Andrew G. +4 more
core +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
Evolution of renal pathology in Fabry disease [PDF]
, 2003 Fabry disease is a rare lysosomal storage disorder which results from deficient activity of the enzyme alpha-galactosidase A. The resultant deposition and progressive accumulation of glycosphingolipids in all types of body tissue leads to severe clinical
M. Meroni +7 more
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Manifestaciones oculares de la enfermedad de Fabry en pacientes colombianos [PDF]
, 2019 Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye.This case ...
de-la-Torre, Alejandra +5 more
core +2 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
Cognitive dysfunction and depression in Fabry disease: a systematic review. [PDF]
, 2014 Background Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders.
David J. Werring +9 more
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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
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
PLoS ONE, 2013 Fabry disease is an X-linked genetic disorder caused by defects in the α-galactosidase A (GLA) gene, and heterogeneous mutations lead to quantitative and/or qualitative defects in GLA protein in male patients with Fabry disease.
Sachie Nakano +8 more
doaj +1 more source