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Updated: Jul 16, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Letter to the Editor: The race against time in genetic testing for PALF
Fernanda Monge Urrea1, Joseph Valamparampil2, Robert Hegarty1
1Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.
No abstract available in PubMed .
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