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  1. 1
    PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

    PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening by Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr

    Published 2023-11-01
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  2. 2
    A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

    A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease by Alexandra Astner-Rohracher, Alexandra Astner-Rohracher, Matthias Mauritz, Matthias Mauritz, Markus Leitinger, Markus Leitinger, Fabio Rossini, Fabio Rossini, Gudrun Kalss, Gudrun Kalss, Caroline Neuray, Elisabeth Retter, Saskia B. Wortmann, Saskia B. Wortmann, Melanie T. Achleitner, Johannes A. Mayr, Eugen Trinka, Eugen Trinka, Eugen Trinka, Eugen Trinka

    Published 2023-01-01
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