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

• Main Authors: Sophie Greillier (Author), Laurent Daniel (Author), Catherine Caillaud (Author), Bertrand Dussol (Author), Guy Touchard (Author), Jean-Michel Goujon (Author), Noémie Jourde-Chiche (Author), Mickaël Bobot (Author)
• Format: Book
• Published: BMC, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 gene coding for alpha-galactosidase, and the question of the pathoge...