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Improving Survival and Function in Pediatric TK2d with Nucleoside Therapy
Manage episode 520926616 series 3693267
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Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Caterina Garone, MD, PhD
What if a rare, progressive neuromuscular disease like thymidine kinase 2 deficiency (TK2d) could not only be stabilized, but partially reversed? Based on findings from a pooled analysis of pediatric patients, pyrimidine nucleoside or nucleotide therapy reduced mortality risk up to 95%, with nearly 75% of patients regaining at least one motor milestone. Joining Dr. Charles Turck to explore these survival and functional outcomes is Dr. Caterina Garone, Associate Professor of Medical Genetics in the Department of Medical and Surgical Sciences at the Alma Mater Studiorum University of Bologna in Italy.
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Guest: Caterina Garone, MD, PhD
What if a rare, progressive neuromuscular disease like thymidine kinase 2 deficiency (TK2d) could not only be stabilized, but partially reversed? Based on findings from a pooled analysis of pediatric patients, pyrimidine nucleoside or nucleotide therapy reduced mortality risk up to 95%, with nearly 75% of patients regaining at least one motor milestone. Joining Dr. Charles Turck to explore these survival and functional outcomes is Dr. Caterina Garone, Associate Professor of Medical Genetics in the Department of Medical and Surgical Sciences at the Alma Mater Studiorum University of Bologna in Italy.
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