Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion

Ulla Feldt-Rasmussen, Robert Dobrovolny, Irina Nazarenko, Martin Ballegaard, Lis Hasholt, Ase K Rasmussen, Erik Ilsø Christensen, Soren S Sorensen, Flemming Wibrand, Robert J Desnick

8 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion'. Together they form a unique fingerprint.

Medicine & Life Sciences

Chemical Compounds