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  1. 1
    Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population

    Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Pop... by Shifali Singh, Lisa Kluen, Katelin Curtis, Raquel Norel, Carla Agurto, Elizabeth Grinspoon, Zoe Hawks, Shawn Christ, Susan Waisbren, Guillermo Cecchi, Laura Germine

    Published 2025-06-01
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  2. 2
    P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia

    P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia by Georgianne Arnold, Hadley Morotti, Gerard Berry, Shawn Christ, Dorothy Grange, Cary Harding, Elaina Jurecki, Uta Lichter-Konecki, Harvey Levy, Nicola Longo, Stephanie Sacharow, Brian Shayota, Janet Thomas, Desiree White

    Published 2025-01-01
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