First phenotypic description of a female patient with c.610  T > C variant of GLA: a renal-predominant presentation of Fabry disease

Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA ...

Source: BMC Medical Genetics - June 26, 2020 Category: Genetics & Stem Cells Authors: Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, No émie Jourde-Chiche and Mickaël Bobot Tags: Case report Source Type: research