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

Ulla Feldt-Rasmussen, Robert Dobrovolny, Irina Nazarenko, Martin Ballegaard, Lis Hasholt, Åse K. Rasmussen, Erik I. Christensen, Soren S. Sorensen, Flemming Wibrand, Robert J. Desnick
  • Molecular Genetics and Metabolism, November 2011, Elsevier
  • DOI: 10.1016/j.ymgme.2011.05.008

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The following have contributed to this page: Professor Ulla Feldt-Rasmussen