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

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

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

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Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil by Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny

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Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation by Nina Lenherr, Viktoria A. Pfeifle, Stefan Holland-Cunz, Susanna H. M. Sluka, Beat Thöny, Gabor Szinnai, Martina Huemer, Marianne Rohrbach, Ralph Fingerhut

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Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. by Ana Rivera-Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Veronique Rüfenacht, Belén Pérez, Magdalena Ugarte, Johannes Häberle, Beat Thöny, Lourdes Ruiz Desviat

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

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Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter by Hiu Man Grisch-Chan, Andrea Schlegel, Tanja Scherer, Gabriella Allegri, Raphael Heidelberger, Panagiota Tsikrika, Marco Schmeer, Martin Schleef, Cary O. Harding, Johannes Häberle, Beat Thöny

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Development of Covalent Chitosan-Polyethylenimine Derivatives as Gene Delivery Vehicle: Synthesis, Characterization, and Evaluation by Laura Nicolle, Jens Casper, Melanie Willimann, Céline M. A. Journot, Pascal Detampel, Tomaž Einfalt, Hiu Man Grisch-Chan, Beat Thöny, Sandrine Gerber-Lemaire, Jörg Huwyler

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The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase by Oscar Aubi, Karina S. Prestegård, Kunwar Jung-KC, Tie-Jun Sten Shi, Ming Ying, Ann Kari Grindheim, Tanja Scherer, Arve Ulvik, Adrian McCann, Endy Spriet, Beat Thöny, Aurora Martinez

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Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice by Sereina Deplazes, Andrea Schlegel, Zhuolun Song, Gabriella Allegri, Nicole Rimann, Tanja Scherer, Melanie Willimann, Lennart Opitz, Sharon C. Cunningham, Ian E. Alexander, Anja Kipar, Johannes Häberle, Beat Thöny, Hiu Man Grisch-Chan

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Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing. by Robert A Kaiser, Daniel F Carlson, Kari L Allen, Dennis A Webster, Caitlin J VanLith, Clara T Nicolas, Lori G Hillin, Yue Yu, Catherine W Kaiser, William R Wahoff, Raymond D Hickey, Adrienne L Watson, Shelley R Winn, Beat Thöny, Douglas R Kern, Cary O Harding, Joseph B Lillegard

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

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