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 Citationer (Scopus)

    Fingeraftryk

    Dyk ned i forskningsemnerne om 'Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion'. Sammen danner de et unikt fingeraftryk.

    Medicin og biovidenskab

    Kemiske forbindelser