Results 21 to 30 of about 35,392 (213)
Molecular Genetics and Metabolism Reports, 2019 Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated ...
Amy Kritzer +3 more
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An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
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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
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Anderson-Fabry disease: a multiorgan disease. [PDF]
, 2013 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo +5 more
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A 15-year perspective of the fabry outcome survey [PDF]
, 2016 The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M +9 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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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
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Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]
, 2017 Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F. +6 more
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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
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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
doaj +1 more source