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

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

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

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, ID-UKE COVID- Study Group
Published 2021-04-01

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