Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control[S]

by Sarah Klünder, Jörg Heeren, Sandra Markmann, René Santer, Thomas Braulke, Sandra Pohl
Published 2015-08-01

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

by Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden, René Santer
Published 2023-06-01

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) Variants

by Sarah C. Grünert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko, Ute Spiekerkoetter, René Santer
Published 2021-11-01

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

by Lara M. Marten, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer
Published 2020-12-01

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany

by Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer
Published 2023-01-01

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

by Luise Sophie Ammer, Nicole Maria Muschol, René Santer, Annika Lang, Sandra Rafaela Breyer, Phillip Brenya Sasu, Martin Petzoldt, Thorsten Dohrmann
Published 2022-06-01

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

by Line Modin, Vicky Ng, Paul Gissen, Julian Raiman, Eva Doreen Pfister, Anibh Das, René Santer, Hanna Faghfoury, Saikat Santra, Ulrich Baumann
Published 2021-09-01

Hip Morphology in Mucolipidosis Type II

by Luise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, Sandra Pohl, Maria Estela Rubio-Gozalbo, René Santer, Ralf Stuecker, Eik Vettorazzi, Sandra Rafaela Breyer
Published 2020-03-01

CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

by Luise Sophie Ammer, Karolin Täuber, Anna Perez, Thorsten Dohrmann, Jonas Denecke, René Santer, Ulrike Blümlein, Ann-Kathrin Ozga, Sandra Pohl, Nicole Maria Muschol
Published 2023-06-01

High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor γ: Implications for the pathophysiology of phenylketonuria

by Udo Schumacher, Zoltan Lukacs, Christian Kaltschmidt, Christian Freudlsperger, Dorothea Schulz, Kai Kompisch, Reinhard Müller, Tanja Rudolph, René Santer, Dietrich E. Lorke, Kurt Ullrich
Published 2008-12-01

Longitudinal Development of Antibody Responses in COVID-19 Patients of Different Severity with ELISA, Peptide, and Glycan Arrays: An Immunological Case Series

by Jasmin Heidepriem, Christine Dahlke, Robin Kobbe, René Santer, Till Koch, Anahita Fathi, Bruna M. S. Seco, My L. Ly, Stefan Schmiedel, Dorothee Schwinge, Sonia Serna, Katrin Sellrie, Niels-Christian Reichardt, Peter H. Seeberger, Marylyn M. Addo, Felix F. Loeffler, on behalf of the ID-UKE COVID-19 Study Group
Published 2021-04-01

Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders

by Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Published 2024-04-01

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

by Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Published 2022-12-01

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

by Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann
Published 2022-08-01

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

by Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Published 2021-09-01