Personalizing Therapeutic Decisions in Fabry Disease
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel assay, researchers from Rostock University and CENTOGENE have now re-investigated almost 200 Fabry mutations. Their findings, which have profound therapeutic implications, were published in the International Journal of Molecular Sciences.
Authors
- Jan Lukas , PhD
- Chiara Cimmaruta
- L Liguori
- Dr. rer. nat. Supansa Pantoom
- Katharina Iwanov
- Janine Petters
- Christina Hund
- Maik Bunschkowski
- Andreas Hermann , MD
- Maria Cubellis
- Prof. Arndt Rolfs , MD