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 Frydenreich Hasholt, Ase K Rasmussen, Erik I Christensen, Soren S Sorensen, Flemming Wibrand, Robert J Desnick

    8 Citations (Scopus)

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