Hasil Pencarian - Sarah Donoghue

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  1. 1
    Pain management challenges in a patient with mucopolysaccharidosis IVA

    Pain management challenges in a patient with mucopolysaccharidosis IVA oleh Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace

    Diterbitkan 2024-08-01
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  2. 2
    Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

    Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature oleh Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue

    Diterbitkan 2021-03-01
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  3. 3
    P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome

    P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome oleh Sarah Donoghue, Cara Skraban, Jake Squicciarini, Jing Wang, Alyssa Rippert, Donna McDonald-McGinn, Elaine Zackai

    Diterbitkan 2024-01-01
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  4. 4
    Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

    Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies oleh Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

    Diterbitkan 2022-05-01
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