The phenotypic spectrum of PTCD3 deficiency by Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A. Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T. Achleitner, Hanan AlQudairy, Sander Pajusalu, Janis Stavusis, Pawel Zayakin, Inna Inashkina

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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

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Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver by Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, Ivana Rako, Slobodan Galić, Toni Matić, Filip Rubić, Ivana Čulo Čagalj, Davor Mayer, Ante Gojević, Stanko Ćavar, Marijana Ćorić, Melanie T. Achleitner, Johannes A. Mayr, Ksenija Fumić, Jurica Vuković, Ivo Barić

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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

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