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Fabry disease presenting with sudden hearing loss and otosclerosis: a case report
Journal of Medical Case Reports, 2012 Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys ...
Felisati Giovanni +5 more
doaj +1 more source
Journal of Medical Genetics, 2020 Background Fabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic GLA variants. The phenotypic heterogeneity is considerable, with two major forms, classic and later-onset disease, but adjudication of ...
D. Germain +9 more
semanticscholar +1 more source
Precision medicine in Fabry disease.
Nephrology, Dialysis and Transplantation, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to a deficiency in α-galactosidase A. The lysosomal accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3)
Malte Lenders, E. Brand
semanticscholar +1 more source
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
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
Neurological complications of Anderson-Fabry disease [PDF]
, 2013 Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina +6 more
core +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
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
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.
Haruka Kato +5 more
openaire +4 more sources
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