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AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Pearson, Toni S, Gilbert, Laura, Opladen, Thomas, Garcia-Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa
Published in Journal of Inherited Metabolic Disease (01.09.2020)
Published in Journal of Inherited Metabolic Disease (01.09.2020)
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Journal Article
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Burlina, Alberto, Giuliani, Antonella, Polo, Giulia, Gueraldi, Daniela, Gragnaniello, Vincenza, Cazzorla, Chiara, Opladen, Thomas, Hoffmann, Georg, Blau, Nenad, Burlina, Alessandro P.
Published in Molecular Genetics and Metabolism (01.05.2021)
Published in Molecular Genetics and Metabolism (01.05.2021)
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Journal Article
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots
Brennenstuhl, Heiko, Kohlmüller, Dirk, Gramer, Gwendolyn, Garbade, Sven F., Syrbe, Steffen, Feyh, Patrik, Kölker, Stefan, Okun, Jürgen G., Hoffmann, Georg F., Opladen, Thomas
Published in Journal of inherited metabolic disease (01.05.2020)
Published in Journal of inherited metabolic disease (01.05.2020)
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Journal Article
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
Pearson, Toni S., Gupta, Nalin, San Sebastian, Waldy, Imamura-Ching, Jill, Viehoever, Amy, Grijalvo-Perez, Ana, Fay, Alex J., Seth, Neha, Lundy, Shannon M., Seo, Youngho, Pampaloni, Miguel, Hyland, Keith, Smith, Erin, de Oliveira Barbosa, Gardenia, Heathcock, Jill C., Minnema, Amy, Lonser, Russell, Elder, J. Bradley, Leonard, Jeffrey, Larson, Paul, Bankiewicz, Krystof S.
Published in Nature communications (12.07.2021)
Published in Nature communications (12.07.2021)
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Journal Article