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Penetrance, expressivity, and outcomes in classic galactosemia

Penetrance, expressivity, and outcomes in classic galactosemia

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 In this episode we discuss new insights into the variability of long-term outcomes in classic galactosemia. Joining me are Nikki Smith, Olivia Garrett, and Judy Fridovich-Keil, who together explore how complications in cognitive, motor, and speech domains emerge, cluster, and vary in severity across patients. Their study highlights both patterns and unanswered questions, illustrating the challenges families face and the importance of refining prognostic tools. Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia Nicole H. Smith et al. https://doi.org/10.1002/jimd.70020
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