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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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Bibliographic Details
Title: Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion
Authors: Feldt-Rasmussen, Ulla1 ufeldt@rh.dk, Dobrovolny, Robert2, Nazarenko, Irina2, Ballegaard, Martin3, Hasholt, Lis4, Rasmussen, Åse K.1, Christensen, Erik I.5, Sorensen, Soren S.6, Wibrand, Flemming7, Desnick, Robert J.2 robert.desnick@mssm.edu
Source: Molecular Genetics & Metabolism. Nov2011, Vol. 104 Issue 3, p314-318. 5p.
Database: Academic Search Ultimate
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