Hasil Pencarian - Stephan Rust

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  1. 1
    Uridine Treatment of the First Known Case of SLC25A36 Deficiency

    Uridine Treatment of the First Known Case of SLC25A36 Deficiency oleh Luisa Jasper, Pasquale Scarcia, Stephan Rust, Janine Reunert, Ferdinando Palmieri, Thorsten Marquardt

    Diterbitkan 2021-09-01
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  2. 2
    Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

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

    Diterbitkan 2016-02-01
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  3. 3
    Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)

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

    Diterbitkan 2021-07-01
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  4. 4
    Long-term Observations of Atmospheric Halogenated Organic Trace Gases

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

    Diterbitkan 2020-03-01
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  5. 5
    Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

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

    Diterbitkan 2024-04-01
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  6. 6
    SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

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

    Diterbitkan 2020-12-01
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  7. 7
    Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report

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

    Diterbitkan 2021-04-01
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  8. 8
    Limitations of galactose therapy in phosphoglucomutase 1 deficiency

    Limitations of galactose therapy in phosphoglucomutase 1 deficiency oleh 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

    Diterbitkan 2017-12-01
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  9. 9
    Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17.

    Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. oleh 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

    Diterbitkan 2006-05-01
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  10. 10
    CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

    CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. oleh 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

    Diterbitkan 2014-04-01
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  11. 11
    Mitochondrial DNA mutations in Medulloblastoma

    Mitochondrial DNA mutations in Medulloblastoma oleh 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

    Diterbitkan 2023-07-01
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