Хайлтын үр дүнгүүд - Peter Freisinger

Үр дүнг сайжруулах
  1. 1
    Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature

    Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature -н Enke Grabhorn, Konstantinos Tsiakas, Uta Herden, Lutz Fischer, Peter Freisinger, Thorsten Marquardt, Rainer Ganschow, Andrea Briem‐Richter, René Santer

    Хэвлэсэн 2014
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    Revisão
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  2. 2
    Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

    Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway -н Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz Zimmermann, T Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl

    Хэвлэсэн 2011
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    Artigo
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  3. 3
    Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation

    Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation -н Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, Wolfgang Sperl

    Хэвлэсэн 2007
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    Artigo
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  4. 4
    Spectrum of combined respiratory chain defects

    Spectrum of combined respiratory chain defects -н Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl

    Хэвлэсэн 2015
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    Revisão
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  5. 5
    Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions

    Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions -н Stephen P. Burr, Ana S.H. Costa, Guinevere L. Grice, Richard T. Timms, Ian Lobb, Peter Freisinger, Roger B. Dodd, Gordon Dougan, Paul J. Lehner, Christian Frezza, James A. Nathan

    Хэвлэсэн 2016
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    Artigo
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  6. 6
    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation -н Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, Hana Hansíková, Pavel Ješina, Olaf A. Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy Van Coster, Stanislav Kmoch, J Houštěk, Wolfgang Sperl, J Zeman

    Хэвлэсэн 2010
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    Artigo
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  7. 7
    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome

    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome -н Tobias B. Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A. Mayr, Peter Freisinger, Hiroki‎ Yoshimatsu, Ken‐ichi Inui, Tim M. Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch

    Хэвлэсэн 2012
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    Artigo
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  8. 8
    Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

    Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options -н Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici, Peter Freisinger, Dries Dobbelaere, Claire Douillard, Nawal Makhseed, Beate K. Straub, Kimia Kahrizi, Diana Ballhausen, Giancarlo la Marca, Stefan Kölker, Dorothea Haas, Georg F. Hoffmann, Sarah C. Grünert, Henk J. Blom

    Хэвлэсэн 2015
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    Artigo
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  9. 9
    Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

    Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia -н Étienne Mornet, A. Taillandier, S Peyramaure, Fiona Kaper, Françoise Müller, Rolf E. Brenner, P Bussière, Peter Freisinger, J. Godard, M. Le Merrer, J.F. Oury, H Plauchu, Roberta Puddu, Rival Jm, Andrea Superti‐Furga, R. Touraine, JL Serre, Brigitte Simon‐Bouy

    Хэвлэсэн 1998
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    Artigo
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  10. 10
    Phenylalanine Effects on Brain Function in Adult Phenylketonuria

    Phenylalanine Effects on Brain Function in Adult Phenylketonuria -н Andrea Pilotto, Carl Moritz Zipser, Edytha Leks, Dorothea Haas, Gwendolyn Gramer, Peter Freisinger, Eva Schaeffer, Inga Liepelt‐Scarfone, Kathrin Brockmann, Walter Maetzler, Claudia Schulte, Christian Deuschle, Ann Kathrin Hauser, Georg F. Hoffmann, Klaus Scheffler, Francjan J. van Spronsen, Alessandro Padovani, Friedrich K. Trefz, Daniela Berg

    Хэвлэсэн 2020
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    Artigo
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  11. 11
    ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

    ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy -н 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

    Хэвлэсэн 2013
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    Artigo
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  12. 12
    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin -н Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaële Pitelet, Callum Wilson, U Gruber‐Sedlmayr, Reinhard Ullmann, Stefan A. Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner

    Хэвлэсэн 2012
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    Artigo
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  13. 13
    Impact of age at onset and newborn screening on outcome in organic acidurias

    Impact of age at onset and newborn screening on outcome in organic acidurias -н Jana Herınger, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić, Matthias R. Baumgartner, Peter Burgard, Alberto Burlina, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut‐Cegielska, John H. Walter, Jiri Zeman, B. Chabrol, Stefan Kölker

    Хэвлэсэн 2015
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    Artigo
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  14. 14
    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias -н Anna T. Reischl‐Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer‐Steinhoff, Sarah C. Grünert, Eva Thimm, Peter Freisinger, Julia B. Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Ulrike Mütze

    Хэвлэсэн 2024
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    Artigo
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  15. 15
    Delineating <i>MT-ATP6</i> -associated disease

    Delineating <i>MT-ATP6</i> -associated disease -н Claudia Stendel, Christiane Neuhofer, Elisa Floride, Yuqing Shi, Rebecca Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Lüdger Schöls, Felix Distelmaier, Georg M. Stettner, Boriana Büchner, Marni J. Falk, Johannes A. Mayr, Matthis Synofzik, Angela Abicht, Tobias B. Haack, Holger Prokisch, Saskia B. Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock

    Хэвлэсэн 2020
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    Artigo
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  16. 16
    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency -н 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

    Хэвлэсэн 2015
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    Artigo
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  17. 17
    <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

    <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome -н Sarah L. Stenton, Markéta Tesařová, Н Л Шеремет, Claudia B. Catarino, Valério Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka‐Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary Kay Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska‐Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch

    Хэвлэсэн 2022
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    Artigo
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  18. 18
    Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

    Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing -н Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch

    Хэвлэсэн 2012
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    Artigo
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  19. 19
    Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects

    Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects -н Maria A. Rujano, M Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H. Park, Peter Freisinger, Erika Souche, María Clara Guida, Esther M. Maier, Yoshinao Wada, Stefanie Jäger, Nevan J. Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, Thomas D. Bird, Wendy H. Raskind, Michael Schwake, Sandrine Duvet, François Foulquier, Gert Matthijs, Thorsten Marquardt, Matias Simons

    Хэвлэсэн 2017
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    Artigo
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  20. 20
    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria -н Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker

    Хэвлэсэн 2021
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    Artigo
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