Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion
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| Description | scientific article published on 14 May 2011 |
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author: Robert Dobrovolny Martin Ballegaard Lis Frydenreich Hasholt Robert J. Desnick Ulla Feldt-Rasmussen |
| Publication date | May 14, 2011 |
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