Neuropediatrics

Issue S 02 · Volume 50 · September 2019 DOI: 10.1055/s-009-44190

Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics
München, 11.09 – 14.09.2019

Chair: Prof. Dr. Martin Staudt, Pediatric Neurology, Neurorehabilitation and Epileptology, Schön Klinik Vogtareuth

Abstracts (HTML) List of Authors

Poster Presentations

Poster Area GNP Metabolic/Neurodegenerative Disorders

GNP-PO35

Adam, Kristine; Köhler, Cornelia; Thiels, Charlotte; Lücke, Thomas: Tyrosine Hydroxylase Deficiency due to a Compound-heterozygote Mutation with One Kwon Mutation and One Previously not Described Variant on the TH-Gen

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GNP-PO36

Wibbeler, Eva; Schulz, Angela; Nickel, Miriam; Schwering, Christoph: Experiences with Cannabidiol in Patients with NCL Disease

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GNP-PO37

Christ, Stine; Richter, Sylvia; Okun, Jürgen; Okun, Pamela; Klinke, Glynis; Rossmann, Julia; Kölker, Stefan; Hoffmann, Georg Friedrich; Opladen, Thomas: NeuroMetabolom – A Project to Optimize the Diagnosis in Rare Neurometabolic Diseases

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GNP-PO38

Posset, Roland; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Burrage, Lindsay C.; Bedoyan, Jirair K.; Wong, Derek; Berry, Gerard T.; Baumgartner, Matthias R.; Yudkoff, Marc; Zielonka, Matthias; Hoffmann, Georg F.; Burgard, Peter; Kowoll, Magdalena E.: Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies

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GNP-PO39

Zielonka, Matthias; Breuer, Maximilian; Probst, Joris; Carl, Matthias; Hoffmann, Georg F.; Okun, Jürgen G.; Kölker, Stefan: Pharmacologic Rescue of Hyperammonemia-induced Neurotoxicity by Inhibition of Ornithine Aminotransferase in a Zebrafish Model of Acute Hyperammonemic Encephalopathy

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GNP-PO40

Boy, Nikolas; Garbade, Sven F.; Mengler, Katharina; Kölker, Stefan: Effect of Newborn Screening and Adherence to Recommended Treatment on Clinical Outcome in Glutaric Aciduria Type 1: A Meta-analysis

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GNP-PO41

Schröder, Simona; Waterham, Hans Rudolf; Ebberink, M. S.; Ferdinandusse, Sacha; Spiegler, Juliane: ACOX1-Deficiency Causing a Severe Developmental Delay and Epilepsy

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GNP-PO42

Elgün, Saskia; Kehrer, Christiane; Raabe, Christa; Böhringer, Judith; Bevot, Andrea; Kaiser, Nadja; Schöls, Ludger; Groeschel, Samuel; Krägeloh-Mann, Ingeborg: Influence of Age and Type of First Symptoms on Disease Progression in Metachromatic Leukodystrophy

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GNP-PO43

Johannsen, Jessika; Muschol, Nicole; Schulz, Angela; Denecke, Jonas: EEG Scoring in Degenerative Brain Diseases of Childhood: The Pediatric Neurodegeneration EEG Scoring (PNES)

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GNP-PO44

Lau, Heather; Shaywitz, Adam; Kirby, Kathleen; Oppermann, Ilena; Balser, John P.; Eichler, Florian; Bley, Annette: The First Multi-Center, Multi-National Retrospective and Prospective Natural History Study of Canavan Disease

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GNP-PO45

Heidelberg, Friederike; Valcheva, Deyana; Rosenbaum, Thorsten; Abicht, Angela: Autism Spectrum Disorder as First Symptom of Neuronal Ceroid Lipofuscinosis Type 7 (NCL7)

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GNP-PO46

Werner, Christian; Chien, Yin-Hsiu; Lee, Ni-Chung; Tseng, Sheng-Hong; Tai, Chun-Hwei; Hwu, Wuh-Liang; Conway, Anne Marie; Pykett, Mark: AGIL-AADC Gene Therapy Results in Sustained Improvements in Motor and Developmental Milestones over 5 Years in Children with AADC Deficiency

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