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https://www.readbyqxmd.com/read/17160925/-neurological-manifestations-of-fabry-disease
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REVIEW
M Mendióroz, I Fernández-Cadenas, J Montaner
AIM: To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease. DEVELOPMENT: Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells. Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults. Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity...
December 16, 2006: Revista de Neurologia
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