Five novel mutations in fourteen patients with Fabry Disease

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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K M Rosenberg1, R Schiffmann, C Kaneski

  • 1Institute of Medical Biochemistry and Genetics, Department of Genetics, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.

Human Mutation
|January 29, 2000
PubMed

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