检索结果 - Franz Zimmermann
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Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation 由 Johannes A. Mayr, Franz Zimmermann, Christine Fauth, Christa Bergheim, David Meierhofer, Doris Radmayr, Johannes Zschocke, Johannes Koch, Wolfgang Sperl
出版 2011Artigo -
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Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway 由 Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz Zimmermann, T Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl
出版 2011Artigo -
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Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study 由 Barbara Kofler, Edith E. Mueller, Waltraud Eder, Olaf Stanger, Richard Maier, Martin Weger, Anton Haas, Robert Winker, O. Schmut, Bernhard Paulweber, Bernhard Iglseder, Wilfried Renner, Martina Wiesbauer, Irene Aigner, Danijela Šantić, Franz Zimmermann, Johannes A. Mayr, Wolfgang Sperl
出版 2009Artigo -
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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome 由 Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf, Franz Zimmermann, Thomas Wieland, Birgit Haberberger, Andrea Superti‐Furga, Janbernd Kirschner, Beat Steinmann, Matthias R. Baumgartner, Isabella Moroni, Eleonora Lamantea, Massimo Zeviani, Richard J. Rodenburg, Jan Smeitink, Tim M. Strom, Thomas Meitinger, Wolfgang Sperl, Holger Prokisch
出版 2012Artigo -
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ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy 由 Tobias B. Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J. Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz Zimmermann, Ralf A. Husain, Jessica Schum, Helen Mundy, Ileana Ferrero, Tim M. Strom, Thomas Meitinger, Robert W. Taylor, Michal Minczuk, Johannes A. Mayr, Holger Prokisch
出版 2013Artigo -
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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency 由 Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander, Steven Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack
出版 2015Artigo
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Biology
Biochemistry
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Mitochondrial DNA
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Mitochondrial respiratory chain
Oxidative phosphorylation
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Amino acid
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Cell biology
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Glycine
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Succinate dehydrogenase
ATP hydrolysis
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