A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

por Fazeli, Walid, Kaczmarek, Sigrid, Kirschstein, Martin, Santer, René
Publicado 2015

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes

por Langer, Sara, Waterstradt, Rica, Hillebrand, Georg, Santer, René, Baltrusch, Simone
Publicado 2021

Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups

por Kuhnigk, Olaf, Weidtmann, Katja, Anders, Sven, Hüneke, Bernd, Santer, René, Harendza, Sigrid
Publicado 2011

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

por Murko, Simona, Peschka, Manuela, Tsiakas, Konstantinos, Schulz-Jürgensen, Sebastian, Herden, Uta, Santer, René
Publicado 2023

Stoffwechselerkrankungen

por Rodeck, Burkhard, Santer, René, Muschol, Nicole, Burdelski, Martin, Melter, Michael, Ganschow, Rainer, Baumann, Ulrich
Publicado 2013

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

por Marten, Lara M., Brinkert, Florian, Smith, Desirée E.C., Prokisch, Holger, Hempel, Maja, Santer, René
Publicado 2020

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

por Grünert, Sarah C., Schumann, Anke, Baronio, Federico, Tsiakas, Konstantinos, Murko, Simona, Spiekerkoetter, Ute, Santer, René
Publicado 2021

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

por Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat
Publicado 2016

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

por Murko, Simona, Aseman, Asra Dadkhah, Reinhardt, Friederike, Gramer, Gwendolyn, Okun, Jürgen Günther, Mütze, Ulrike, Santer, René
Publicado 2022

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

por Ammer, Luise Sophie, Muschol, Nicole Maria, Santer, René, Lang, Annika, Breyer, Sandra Rafaela, Sasu, Phillip Brenya, Petzoldt, Martin, Dohrmann, Thorsten
Publicado 2022

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

por Modin, Line, Ng, Vicky, Gissen, Paul, Raiman, Julian, Pfister, Eva Doreen, Das, Anibh, Santer, René, Faghfoury, Hanna, Santra, Saikat, Baumann, Ulrich
Publicado 2021

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

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

Hip Morphology in Mucolipidosis Type II

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

Suggested guidelines for the diagnosis and management of urea cycle disorders

por Häberle, Johannes, Boddaert, Nathalie, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Huemer, Martina, Karall, Daniela, Martinelli, Diego, Crespo, Pablo Sanjurjo, Santer, René, Servais, Aude, Valayannopoulos, Vassili, Lindner, Martin, Rubio, Vicente, Dionisi-Vici, Carlo
Publicado 2012

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

por Kollmann, Katrin, Pestka, Jan Malte, Kühn, Sonja Christin, Schöne, Elisabeth, Schweizer, Michaela, Karkmann, Kathrin, Otomo, Takanobu, Catala-Lehnen, Philip, Failla, Antonio Virgilio, Marshall, Robert Percy, Krause, Matthias, Santer, Rene, Amling, Michael, Braulke, Thomas, Schinke, Thorsten
Publicado 2013

SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

por Pfefferle, Susanne, Günther, Thomas, Kobbe, Robin, Czech-Sioli, Manja, Nörz, Dominic, Santer, René, Oh, Jun, Kluge, Stefan, Oestereich, Lisa, Peldschus, Kersten, Indenbirken, Daniela, Huang, Jiabin, Grundhoff, Adam, Aepfelbacher, Martin, Knobloch, Johannes K., Lütgehetmann, Marc, Fischer, Nicole
Publicado 2021

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

por Heidepriem, Jasmin, Dahlke, Christine, Kobbe, Robin, Santer, René, Koch, Till, Fathi, Anahita, Seco, Bruna M. S., Ly, My L., Schmiedel, Stefan, Schwinge, Dorothee, Serna, Sonia, Sellrie, Katrin, Reichardt, Niels-Christian, Seeberger, Peter H., Addo, Marylyn M., Loeffler, Felix F.
Publicado 2021

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

por Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R
Publicado 2012

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

por Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.
Publicado 2016

Effects of Infantile Hypophosphatasia on Human Dental Tissue

por Wölfel, Eva Maria, von Kroge, Simon, Matthies, Levi, Koehne, Till, Petz, Karin, Beikler, Thomas, Schmid-Herrmann, Carmen Ulrike, Kahl-Nieke, Bärbel, Tsiakas, Konstantinos, Santer, René, Muschol, Nicole Maria, Herrmann, Jochen, Busse, Björn, Amling, Michael, Rolvien, Tim, Jandl, Nico Maximilian, Barvencik, Florian
Publicado 2022