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 manifestat...
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