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Updated: Jan 20, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Infantile onset Pompe disease presenting with non-immune hydrops fetalis
Kristen Lee1, Rachel Fisher1, Shane C Quinonez1
1Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.
No abstract available in PubMed .
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