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

• मुख्य लेखकों: Sophie Greillier (लेखक), Laurent Daniel (लेखक), Catherine Caillaud (लेखक), Bertrand Dussol (लेखक), Guy Touchard (लेखक), Jean-Michel Goujon (लेखक), Noémie Jourde-Chiche (लेखक), Mickaël Bobot (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...