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Listen "Galactosemia: An old diagnosis with new ideas"
Episode Synopsis
Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the promise of new treatments, what drives their interest in galactosemia and a new method for formally assessing fine motor control in these patients.
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups
Shauna A. Rasmussen et al.
https://doi.org/10.1002/jimd.12311
Hand fine motor control in classic galactosemia
Jessica MacWilliams et al.
https://doi.org/10.1002/jimd.12376
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups
Shauna A. Rasmussen et al.
https://doi.org/10.1002/jimd.12311
Hand fine motor control in classic galactosemia
Jessica MacWilliams et al.
https://doi.org/10.1002/jimd.12376
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