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Updated: May 13, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Anderson-Fabry disease in children

Simona Sestito1, Ferdinando Ceravolo, Daniela Concolino

  • 1Department of Pediatrics, University Magna Graecia of Catanzaro, "Pugliese-Ciaccio" Hospital, viale Pio X, 88100 Catanzaro, Italy. dconcolino@unicz.it.

Current Pharmaceutical Design
|March 2, 2013
PubMed
Summary

Pediatric Anderson Fabry Disease (AFD) presents early with diverse symptoms, impacting quality of life. Enzyme replacement therapy (ERT) shows promise, but optimal timing for initiating treatment in children requires further research.

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