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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

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Allele-specific dysregulation of lipid and energy metabolism in early-stage hypertrophic cardiomyopathy by Arpana Vaniya, Anja Karlstaedt, Damla Gulkok, Tilo Thottakara, Yamin Liu, Sili Fan, Hannah Eades, Styliani Vakrou, Ryuya Fukunaga, Hilary J. Vernon, Oliver Fiehn, M. Roselle Abraham

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