%0 Journal Article
%T Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
%A Boris Schmitz
%A Christine Kurschat
%A Christoph Wanner
%A Daniela Blaschke
%A Eva Brand
%A Frank Weidemann
%A Johannes Kr£¿mer
%A J£¿rg Stypmann
%A Malte Lenders
%A Sima Canaan-K¨¹hl
%A Stefan-Martin Brand
%A Stefanie Reiermann
%A Thomas Duning
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0441-z
%X 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
%K Fabry disease
%K Lyso-Gb3
%K Variant of unknown significance
%K Late-onset
%K GLA mutation
%K Stroke
%K Genotype
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855861/