Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.

Source: Orphanet Journal of Rare Diseases - May 4, 2016 Category: Internal Medicine Authors: Malte Lenders, Frank Weidemann, Christine Kurschat, Sima Canaan-Kühl, Thomas Duning, Jörg Stypmann, Boris Schmitz, Stefanie Reiermann, Johannes Krämer, Daniela Blaschke, Christoph Wanner, Stefan-Martin Brand and Eva Brand Source Type: research