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

Get full text

Influence of early stress on social abilities and serotonergic functions across generations in mice. by Tamara B Franklin, Natacha Linder, Holger Russig, Beat Thöny, Isabelle M Mansuy

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Delivery of non-viral naked DNA vectors to liver in small weaned pigs by hydrodynamic retrograde intrabiliary injection by Tatjana Chan, Hiu Man Grisch-Chan, Philipp Schmierer, Ulrike Subotic, Nicole Rimann, Tanja Scherer, Udo Hetzel, Matthias Bozza, Richard Harbottle, James A. Williams, Barbara Steblaj, Simone K. Ringer, Johannes Häberle, Xaver Sidler, Beat Thöny

Get full text

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

Get full text

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)

Get full text

Correction to: 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)

Get full text