Author(s): Rolfs, Prof. Arndt, MD, Hermann, Andreas, MD, Lukas, Jan, PhD, Pantoom, Dr. rer. nat. Supansa, Hund, Christina, Iwanov, Katharina, Petters, Janine, Cimmaruta, Chiara, Cubellis, Maria, Liguori, L, Bunschkowski, Maik
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.
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.
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