ACOX1-Deficiency Causing a Severe Developmental Delay and Epilepsy

Neuropediatrics 2019; 50(S 02): S1-S55
DOI: 10.1055/s-0039-1698235

Poster Presentations

Poster Area GNP Metabolic/Neurodegenerative Disorders

Georg Thieme Verlag KG Stuttgart · New York

Simona Schröder

¹Klinik für Kinder- und Jugendmedizin, Universität zu Lübeck, UKSH, Lübeck, Deutschland, Neuropädiatrie, Lübeck, Germany

,

Hans Rudolf Waterham

²Laboratory Genetic Metabolic Diseases, F0-132, Academic Medical Center, Amsterdam, Netherlands, Enzyme diagnostic section, Amsterdam, Netherlands

,

M. S. Ebberink

²Laboratory Genetic Metabolic Diseases, F0-132, Academic Medical Center, Amsterdam, Netherlands, Enzyme diagnostic section, Amsterdam, Netherlands

,

Sacha Ferdinandusse

²Laboratory Genetic Metabolic Diseases, F0-132, Academic Medical Center, Amsterdam, Netherlands, Enzyme diagnostic section, Amsterdam, Netherlands

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Juliane Spiegler

¹Klinik für Kinder- und Jugendmedizin, Universität zu Lübeck, UKSH, Lübeck, Deutschland, Neuropädiatrie, Lübeck, Germany