Výsledky vyhledávání - Michaela Brunner‐Krainz

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  1. 1
    Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

    Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) Autor Daniela Karall, Michaela Brunner‐Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M. Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar, Sabine Scholl‐Bürgi

    Vydáno 2015
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  2. 2
    Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

    Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies Autor René G. Feichtinger, Michaela Brunner‐Krainz, Bader Alhaddad, Saskia B. Wortmann, Réka Kovács-Nagy, Tatjana Stojaković, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Sternberg, Christine Makowski, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B. Haack, Johannes A. Mayr

    Vydáno 2017
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  3. 3
    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 Autor Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, Matthis Synofzik, Natalie Hauser, Michaela Brunner‐Krainz, U Gruber‐Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew B. Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael Gonzalez, Stephan Züchner, Rebecca Schüle, Michael E. Shy, Michaela Auer‐Grumbach

    Vydáno 2015
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  4. 4
    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients Autor Sarah C. Grünert, S. Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meißner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner‐Krainz, Daniela Karall, Claudia M. Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl‐Bürgi, A. van Teeffelen‐Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti‐Furga, Karl Otfried Schwab, Jörn Oliver Sass

    Vydáno 2013
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  5. 5
    Propionic acidemia: neonatal versus selective metabolic screening

    Propionic acidemia: neonatal versus selective metabolic screening Autor Sarah C. Grünert, S. Müllerleile, L. de Silva, M. Barth, Melanie Walter, Walter K.K. Ho, Thomas Meißner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner‐Krainz, Daniela Karall, Claudia M. Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi Beblo, Hans‐Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl‐Bürgi, A. van Teeffelen‐Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti‐Furga, Karl Otfried Schwab, Jörn Oliver Sass

    Vydáno 2011
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  6. 6
    Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Autor Sebene Mayorandan, Uta Meyer, Gülden Gökçay, Nuria García Segarra, Hélène Ogier de Baulny, Francjan van Spronsen, Jiri Zeman, Corinne De Laet, Ute Spiekerkoetter, Eva Thimm, Arianna Maiorana, Carlo Dionisi‐Vici, Dorothea Möeslinger, Michaela Brunner‐Krainz, Amelie S. Lotz‐Havla, José Ángel Cocho de Juan, María L. Couce, René Santer, Sabine Scholl‐Bürgi, Hanna Mandel, Yngve Thomas Bliksrud, Peter Freisinger, Luis Aldámiz‐Echevarría, Michel Hochuli, Matthias Gautschi, Jessica Endig, Jens Jordan, Patrick McKiernan, Stefanie Ernst, Susanne Morlot, Arndt Vogel, Johannes Sander, Anibh M. Das

    Vydáno 2014
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  7. 7
    Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

    Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire Autor Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian, Khalid Al‐Thihli, Diana Ballhausen, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner‐Krainz, Alberto Burlina, Anupam Chakrapani, Willemijn E. Corpeleijn, Alison Cozens, Charlotte Dawson, Helena Dhamko, Maja Djordjevic Milosevic, Hernán Eiroa, Yael Finezilber, Carolina Fischinger Moura de Souza, Maria Concepción García‐Jiménez, Serena Gasperini, Dorothea Haas, Johannes Häberle, Rebecca Halligan, Law Hiu Fung, Alexandra Hörbe‐Blindt, Laura Horka, Martina Huemer, Sema Kalkan Uçar, Bozica Kecman, Sebile Kılavuz, Gergely Kriván, Martin Lindner, Natalia Lüsebrink, Konstantinos Makrilakis, Anne Mei Kwun Kwok, Esther M. Maier, Arianna Maiorana, Shawn E. McCandless, John James Mitchell, Hiroshi Mizumoto, Helen Mundy, Carlos Ochôa, Kathryn Pierce, Pilar Quijada Fraile, Debra S. Regier, Alessandro Rossi, René Santer, Hester C. Schuman, Piotr Sobieraj, Johannes Spenger, Ronen Spiegel, Karolina M. Stępień, Galit Tal, Mojca Žerjav Tanšek, Ana Drole Torkar, Michel Tchan, Santhosh Thyagu, Samantha A. Schrier Vergano, Erika Vucko, Natalie Weinhold, Petra Zsidegh, Saskia B. Wortmann

    Vydáno 2022
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