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Preprint REVIEW | doi:10.20944/preprints202001.0315.v1

Succinic Semialdehyde Dehydrogenase Deficiency: An Update

Miroslava Didiášová, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen, Ritva Tikkanen

Subject: Medicine And Pharmacology, Pediatrics, Perinatology And Child Health Keywords: succinic semialdehyde dehydrogenase deficiency; gamma-amino butyric acid; organic acidurias; enzyme replacement therapy; pharmacological chaperones; clinical trials; autophagy

Online: 26 January 2020 (08:10:19 CET)

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Preprint ARTICLE | doi:10.20944/preprints202409.0435.v1

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment

Nina-Maria Wilpert, Angela L. Hewitt, Roser Pons, Marie-Thérèse Henke, Andrea Dell’Orco, Martin Bauer, Christiane Grolik, Stephan Menz, Monika Wahle, Annika Zink, Alessandro Prigione, Christina Reinauer, Catharina Lange, Christian Furth, Knut Brockmann, Sabine Jung-Klawitter, Stine Christ, Angela M. Kaindl, Anna Tietze, Heiko Krude, Thomas Opladen, Markus Schuelke

Subject: Medicine And Pharmacology, Neuroscience And Neurology Keywords: MCT8; SLC16A2; movement disorder; parkinsonism; dopamine; iPSC cell model

Online: 6 September 2024 (03:56:23 CEST)

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