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 Citationer (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Neuroscience