Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion - Feldt-Rasmussen, Ulla; Dobrovolny, Robert; Nazarenko, Irina; Ballegaard, Martin; Hasholt, Lis; Rasmussen, Åse K.; Christensen, Erik I.; Sorensen, Soren S.; Wibrand, Flemming; Desnick, Robert J. (Molecular Genetics & Metabolism, 2011)