Article
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
Clinical nephrology - 1 Apr 2013
Romão Elen A, Lourenço Charles M, Júnior Wilson Marques, Rolfs Arndt, Muñoz Veronica, Vieira Neto Osvaldo M, Dantas Marcio, Silva Gyl E B, Costa Roberto S
Abstract excerpt
Fabry disease is an X-linked inborn error of metabolism, which is caused by the deficiency of α-galactosidase A, leading to progressive accumulation of neutral glycosphingolipids and a-galactosyl breakdown products in most body fluids and several tissues, resulting in the clinical manifestations. The onset of Fabry disease symptoms in females is not observed as early as in males. We report a novel...
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