Resultados da pesquisa - Thöny, Beat

State-of-the-art 2003 on PKU gene therapy Por Ding, Zhaobing, Harding, Cary O., Thöny, Beat

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Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient Por Bijarnia‐Mahay, Sunita, Jain, Vivek, Thöny, Beat

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Comparison of Adeno-Associated Virus Pseudotype 1, 2, and 8 Vectors Administered by Intramuscular Injection in the Treatment of Murine Phenylketonuria Por Rebuffat, Alexandre, Harding, Cary O., Ding, Zhaobing, Thöny, Beat

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Phenotypic Reversion of Fair Hair upon Gene Therapy of the Phenylketonuria Mice Por Thöny, Beat, Ding, Zhaobing, Rebuffat, Alexandre, Viecelli, Hiu Man

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Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism Por Ramaekers, Vincent T., Sequeira, Jeffrey M., Thöny, Beat, Quadros, Edward V.

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Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia Por Bonafé, Luisa, Thöny, Beat, Penzien, Johann M., Czarnecki, Barbara, Blau, Nenad

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State-of-the-Art 2019 on Gene Therapy for Phenylketonuria Por Grisch-Chan, Hiu Man, Schwank, Gerald, Harding, Cary O., Thöny, Beat

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Influence of Early Stress on Social Abilities and Serotonergic Functions across Generations in Mice Por Franklin, Tamara B., Linder, Natacha, Russig, Holger, Thöny, Beat, Mansuy, Isabelle M.

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Correction of Murine PKU Following AAV-mediated Intramuscular Expression of a Complete Phenylalanine Hydroxylating System Por Ding, Zhaobing, Harding, Cary O, Rebuffat, Alexandre, Elzaouk, Lina, Wolff, Jon A, Thöny, Beat

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The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria Por Harding, Cary O., Neff, Mark, Wild, Krzysztof, Jones, Kelly, Elzaouk, Lina, Thöny, Beat, Milstien, Sheldon

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Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector Por Lee, Hyung-Ok, Gallego-Villar, Lorena, Grisch-Chan, Hiu Man, Häberle, Johannes, Thöny, Beat, Kruger, Warren D.

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A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency Por Richards, Daelyn Y., Winn, Shelley R., Dudley, Sandra, Fedorov, Lev, Rimann, Nicole, Thöny, Beat, Harding, Cary O.

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Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria Por Pey, Angel L., Ying, Ming, Cremades, Nunilo, Velazquez-Campoy, Adrian, Scherer, Tanja, Thöny, Beat, Sancho, Javier, Martinez, Aurora

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A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver Por Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R

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Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice Por Winn, Shelley R, Scherer, Tanja, Thöny, Beat, Ying, Ming, Martinez, Aurora, Weber, Sydney, Raber, Jacob, Harding, Cary O

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Overexpression of Pterin-4a-carbinolamine Dehydratase/Dimerization Cofactor of Hepatocyte Nuclear Factor 1 in Human Colon Cancer Por Eskinazi, Rally, Thöny, Beat, Svoboda, Michal, Robberecht, Patrick, Dassesse, Donald, Heizmann, Claus W., Van Laethem, Jean-Luc, Resibois, Anne

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Improvement of DNA Vector Delivery of DOTAP Lipoplexes by Short-Chain Aminolipids Por Buck, Jonas, Mueller, Dennis, Mettal, Ute, Ackermann, Miriam, Grisch-Chan, Hiu Man, Thöny, Beat, Zumbuehl, Andreas, Huwyler, Jörg, Witzigmann, Dominik

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Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice Por Winn, Shelley R., Dudley, Sandra, Scherer, Tanja, Rimann, Nicole, Thöny, Beat, Boutros, Sydney, Krenik, Destine, Raber, Jacob, Harding, Cary O.

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Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients Por Khatami, Shohreh, Dehnabeh, Soghra Rouhi, Zeinali, Sirous, Thöny, Beat, Alaei, Mohammadreza, Salehpour, Shadab, Setoodeh, Aria, Rohani, Farzaneh, Hajivalizadeh, Fatemeh, Samavat, Ashraf

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Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man Por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz

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