検索結果 - Santer, René

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe 著者: Fazeli, Walid, Kaczmarek, Sigrid, Kirschstein, Martin, Santer, René

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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 著者: Langer, Sara, Waterstradt, Rica, Hillebrand, Georg, Santer, René, Baltrusch, Simone

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Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis 著者: Cobos, Paulina Nieves, Steglich, Cordula, Santer, René, Lukacs, Zoltan, Gal, Andreas

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Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups 著者: Kuhnigk, Olaf, Weidtmann, Katja, Anders, Sven, Hüneke, Bernd, Santer, René, Harendza, Sigrid

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Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control 著者: Klünder, Sarah, Heeren, Jörg, Markmann, Sandra, Santer, René, Braulke, Thomas, Pohl, Sandra

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Stoffwechselerkrankungen 著者: Rodeck, Burkhard, Santer, René, Muschol, Nicole, Burdelski, Martin, Melter, Michael, Ganschow, Rainer, Baumann, Ulrich

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Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency 著者: Marten, Lara M., Brinkert, Florian, Smith, Desirée E.C., Prokisch, Holger, Hempel, Maja, Santer, René

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Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants 著者: Grünert, Sarah C., Schumann, Anke, Baronio, Federico, Tsiakas, Konstantinos, Murko, Simona, Spiekerkoetter, Ute, Santer, René

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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 著者: Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat

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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms 著者: du Moulin, Marcel, Thies, Bastian, Blohm, Martin, Oh, Jun, Kemper, Markus J., Santer, René, Mühlhausen, Chris

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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder 著者: Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin

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Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients 著者: Ammer, Luise Sophie, Muschol, Nicole Maria, Santer, René, Lang, Annika, Breyer, Sandra Rafaela, Sasu, Phillip Brenya, Petzoldt, Martin, Dohrmann, Thorsten

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A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C 著者: Modin, Line, Ng, Vicky, Gissen, Paul, Raiman, Julian, Pfister, Eva Doreen, Das, Anibh, Santer, René, Faghfoury, Hanna, Santra, Saikat, Baumann, Ulrich

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Hip Morphology in Mucolipidosis Type II 著者: Ammer, Luise Sophie, Oussoren, Esmeralda, Muschol, Nicole Maria, Pohl, Sandra, Rubio-Gozalbo, Maria Estela, Santer, René, Stuecker, Ralf, Vettorazzi, Eik, Breyer, Sandra Rafaela

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MAP17 Is a Necessary Activator of Renal Na(+)/Glucose Cotransporter SGLT2 著者: Coady, Michael J., El Tarazi, Abdulah, Santer, René, Bissonnette, Pierre, Sasseville, Louis J., Calado, Joaquim, Lussier, Yoann, Dumayne, Christopher, Bichet, Daniel G., Lapointe, Jean-Yves

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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies 著者: Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmüller, Janine, Heung, Tracy, Pölsler, Laura, Santer, René, Thiele, Holger, Trost, Brett, Kubisch, Christian, Scherer, Stephen W., Rudnik-Schöneborn, Sabine, Bassett, Anne S., Lessel, Davor

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Suggested guidelines for the diagnosis and management of urea cycle disorders 著者: 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

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

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

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A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening 著者: Ensenauer, Regina, Vockley, Jerry, Willard, Jan-Marie, Huey, Joseph C., Sass, Jörn Oliver, Edland, Steven D., Burton, Barbara K., Berry, Susan A., Santer, René, Grünert, Sarah, Koch, Hans-Georg, Marquardt, Iris, Rinaldo, Piero, Hahn, Sihoun, Matern, Dietrich

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