Results 41 to 50 of about 9,220,596 (237)
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
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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
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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
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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
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Romanian Journal of Neurology, 2018 Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the ...
Ioana Simina Barac +4 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
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Fabry disease: genetics, pathology, and treatment.
Revista da Associação Médica Brasileira, 2020 Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed.
Thaíza Passaglia Bernardes +2 more
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Biomarkers in Anderson–Fabry Disease
International Journal of Molecular Sciences, 2020 Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of ...
I. Simonetta +3 more
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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
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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
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