Resultats de la cerca - Stephan Rust

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening per Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt

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Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MA... per Lisa Kemme, Marianne Grüneberg, Janine Reunert, Stephan Rust, Julien Park, Cordula Westermann, Yoshinao Wada, Oliver Schwartz, Thorsten Marquardt

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Long-term Observations of Atmospheric Halogenated Organic Trace Gases per Stefan Reimann, Martin K. Vollmer, Matthias Hill, Paul Schlauri, Myriam Guillevic, Dominik Brunner, Stephan Rust, Dominique Rust, Lukas Emmenegger

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Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency per Maximilian Penkl, Johannes A. Mayr, René G. Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt

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SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation per Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel

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Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro per Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt

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Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report per Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers, Lambert van den Heuvel, Richard Rodenburg, Anja Seelhöfer, Stephan Rust, Astrid Jeibmann, Michael Frosch, Thorsten Marquardt

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Limitations of galactose therapy in phosphoglucomutase 1 deficiency per Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt

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Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. per Martin Farrall, Fiona R Green, John F Peden, Per G Olsson, Robert Clarke, Mai-Lis Hellenius, Stephan Rust, Jacob Lagercrantz, Maria Grazia Franzosi, Helmut Schulte, Alisoun Carey, Gunnar Olsson, Gerd Assmann, Gianni Tognoni, Rory Collins, Anders Hamsten, Hugh Watkins

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CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. per Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J M Bindels, Joost G J Hoenderop

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Mitochondrial DNA mutations in Medulloblastoma per Viktoria L. E. Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Natalie Jäger, Marcel Kool, David T. W. Jones, Stefan M. Pfister, Till Milde, Stefan Rutkowski, Martin Mynarek, Julian Varghese, Ronald Sträter, Stephan Rust, Anja Seelhöfer, Janine Reunert, Barbara Fiedler, Ulrich Schüller, Thorsten Marquardt, Kornelius Kerl

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