Хайлтын үр дүнгүүд - Daniela Karall

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  1. 1
    Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

    Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy -н Martina Huemer, Sabine Scholl‐Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R. Baumgartner, Daniela Karall

    Хэвлэсэн 2014
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  2. 2
    Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

    Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland -н Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, B. Heinrich, Florian Gleich, Sven F. Garbade

    Хэвлэсэн 2017
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    Artigo
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  3. 3
    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) -н Daniela Karall, Michaela Brunner‐Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M. Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar, Sabine Scholl‐Bürgi

    Хэвлэсэн 2015
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    Artigo
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  4. 4
    24 Development of a suspicion index tool to aid diagnosis of ASMD disease

    24 Development of a suspicion index tool to aid diagnosis of ASMD disease -н Anna‐Maria Wiesinger, Georg Zimmermann, Nicole Muschol, Charolotte Aries, Daniela Karall, Sabine Scholl‐Bürgi, Dorothea Möslinger, Vasiliki Konstantopoulou, Eugen Mengel, Roberto Giugliani, Florian B. Lagler

    Хэвлэсэн 2024
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    Artigo
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  5. 5
    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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  6. 6
    Suggested guidelines for the diagnosis and management of urea cycle disorders

    Suggested guidelines for the diagnosis and management of urea cycle disorders -н Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi‐Vici

    Хэвлэсэн 2012
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  7. 7
    Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

    Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes -н Fatma Ilgaz, Alexander Höller, Cyril F. M. Marsaux, Sandra A. Banta-Wright, Turgay Coşkun, Kelly A. Dingess, Monika Jörg‐Streller, Camille Newby, Rani H. Singh, Bernd Stahl, Clare Szwec, Annemiek M. J. van Wegberg, Willie Woestenenk, Anita MacDonald, Daniela Karall

    Хэвлэсэн 2025
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  8. 8
    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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  9. 9
    <i>KCNC1</i>‐related disorders: new de novo variants expand the phenotypic spectrum

    <i>KCNC1</i>‐related disorders: new de novo variants expand the phenotypic spectrum -н Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, E. Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack

    Хэвлэсэн 2019
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    Artigo
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  10. 10
    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision -н Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi‐Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grünewald, Göknur Haliloğlu, Michel Hochuli, Tomáš Honzík, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl‐Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner

    Хэвлэсэн 2021
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    Artigo
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  11. 11
    Variations in Guidelines for Diagnosis of Child Physical Abuse in High-Income Countries

    Variations in Guidelines for Diagnosis of Child Physical Abuse in High-Income Countries -н Flora Blangis, Slimane Allali, Jérémie F. Cohen, Nathalie Vabres, C. Adamsbaum, Caroline Rey‐Salmon, A. Werner, Yacine Refes, Pauline Adnot, Christèle Gras‐Le Guen, É. Launay, Martin Chalumeau, Daniela Karall, Per Ashorn, A. Werner, Thomas Fischbach, Jacob Urkin, Federica Zanetto, Patrick Theisen, Helena Porfirio, Concepción Sánchez-Pina, Paolo Ramelli

    Хэвлэсэн 2021
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  12. 12
    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop

    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop -н Ute Spiekerkoetter, Martin Lindner, René Santer, Marissa Grotzke, Matthias R. Baumgartner, Hansjosef Boehles, Anibh M. Das, Claudia M. Haase, Julia B. Hennermann, Daniela Karall, H. de Klerk, Ina Knerr, Hans-Georg Koch, Barbara Plecko, Wulf Röschinger, Karl Otfried Schwab, D. Scheible, Frits A. Wijburg, Johannes Zschocke, Ertan Mayatepek, U. Wendel

    Хэвлэсэн 2009
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    Artigo
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  13. 13
    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss -н Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano‐Roy, Francesco Muntoni, Sebahattin Çırak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma B. Romero, R. Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, C. Bönnemann, Johannes Zschocke, Christine Fauth

    Хэвлэсэн 2012
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  14. 14
    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia -н Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

    Хэвлэсэн 2014
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  15. 15
    Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection

    Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection -н Erin E. West, Nicolas S. Merle, Marcin M. Kamiński, Gustavo Palacios, Dhaneshwar Kumar, Luopin Wang, Jack Bibby, Kirsten Overdahl, Alan K. Jarmusch, Simon Freeley, Duck‐Yeon Lee, J. Will Thompson, Zu‐Xi Yu, Naomi Taylor, Marc Sitbon, Douglas R. Green, Andrea C. Bohrer, Katrin D. Mayer-Barber, Behdad Afzali, Majid Kazemian, Sabine Scholl‐Buergi, Daniela Karall, Martina Huemer, Claudia Kemper

    Хэвлэсэн 2023
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    Artigo
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  16. 16
    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations -н Martina Huemer, Daniela Karall, Anna Schossig, José E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi‐Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles Marques Lourenço, Sabine Scholl‐Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

    Хэвлэсэн 2015
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  17. 17
    Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

    Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders -н Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Anibh M. Das, Matthias Gautschi, Esther M. Glahn, Sarah C. Grünert, Julia B. Hennermann, Michel Hochuli, Martina Huemer, Daniela Karall, Stefan Kölker, Robin Lachmann, Amelie S. Lotz‐Havla, Dorothea Möslinger, Jean‐Marc Nuoffer, Barbara Plecko, Frank Rutsch, René Santer, Ute Spiekerkoetter, Christian Staufner, Tamar Stricker, Frits A. Wijburg, Monique Williams, Peter Burgard, Johannes Häberle

    Хэвлэсэн 2013
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  18. 18
    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency -н Gloria Brea‐Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura S. Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl‐Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Plácido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

    Хэвлэсэн 2015
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  19. 19
    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients -н 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

    Хэвлэсэн 2013
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    Artigo
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  20. 20
    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey -н Tracy A. Briggs, Gillian Rice, Navid Adib, Lesley C. Adès, Stéphane Barète, Kannan Baskar, Véronique Baudouin, Ayşe Nurcan Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Güven, Sebastien Héritier, Daniela Karall, Muralidhar L. Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnès Linglart, John H. Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revençu, Sabine Scholl‐Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow

    Хэвлэсэн 2016
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