Výsledky vyhledávání - Sven F. Garbade

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  1. 1
    Reliability and validity of the German “Evidence-Based Practice Confidence (EPIC) Scale” for allied health professionals

    Reliability and validity of the German “Evidence-Based Practice Confidence (EPIC) Scale” for allied health professionals Autor Alexander Elser, Maílson Scherer, Maria Stadel, Sven F. Garbade, Gudrun Diermayr

    Vydáno 2025
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  2. 2
    Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

    Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis Autor Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries

    Vydáno 2017
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  3. 3
    Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

    Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis Autor Nikolas Boy, Katharina Mengler, Jana Heringer‐Seifert, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker

    Vydáno 2020
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  4. 4
    Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

    Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases Autor Shoko Komatsuzaki, Matthias Zielonka, William K. Mountford, Stefan Kölker, Georg F. Hoffmann, Sven F. Garbade, Markus Ries

    Vydáno 2019
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  5. 5
    Blood Trimethylamine-N-Oxide Originates from Microbiota Mediated Breakdown of Phosphatidylcholine and Absorption from Small Intestine

    Blood Trimethylamine-N-Oxide Originates from Microbiota Mediated Breakdown of Phosphatidylcholine and Absorption from Small Intestine Autor Wolfgang Stremmel, K Schmidt, Vera Schuhmann, Frank Kratzer, Sven F. Garbade, Claus‐Dieter Langhans, Gert Fricker, Jürgen G. Okun

    Vydáno 2017
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  6. 6
    Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

    Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria Autor Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffmann, Peter Burgard, Nenad Blau

    Vydáno 2018
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  7. 7
    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 Autor Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, B. Heinrich, Florian Gleich, Sven F. Garbade

    Vydáno 2017
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  8. 8
    Early prediction of phenotypic severity in Citrullinemia Type 1

    Early prediction of phenotypic severity in Citrullinemia Type 1 Autor Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C.S. Nagamani, Andrea Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset

    Vydáno 2019
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  9. 9
    Comparative analysis of gene and disease selection in genomic newborn screening studies

    Comparative analysis of gene and disease selection in genomic newborn screening studies Autor Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva C. Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl

    Vydáno 2024
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  10. 10
    Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

    Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB) Autor Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot, Terttu Suormala, Peter Burgard, Brian Fowler, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, E. R. Baumgartner

    Vydáno 2007
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  11. 11
    Comprehensive Detection of Disorders of Purine and Pyrimidine Metabolism by HPLC with Electrospray Ionization Tandem Mass Spectrometry

    Comprehensive Detection of Disorders of Purine and Pyrimidine Metabolism by HPLC with Electrospray Ionization Tandem Mass Spectrometry Autor S. Hartmann, Jürgen G. Okun, Christiane Schmidt, Claus‐Dieter Langhans, Sven F. Garbade, Peter Burgard, Dorothea Haas, Jörn Oliver Sass, William L. Nyhan, Georg F. Hoffmann

    Vydáno 2006
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  12. 12
    Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

    Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria Autor Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang‐Hoffmann, Marina A. Morath, Gwendolyn Gramer, Wulf Röschinger, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Ulrike Mütze

    Vydáno 2023
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  13. 13
    Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

    Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany Autor Stefan Kölker, Sven F. Garbade, Nikolas Boy, Esther M. Maier, Thomas Meißner, Chris Mühlhausen, Julia B. Hennermann, Thomas Lücke, Johannes Häberle, Jochen Baumkötter, Wolfram Haller, Edith Müller, Johannes Zschocke, Peter Burgard, Georg F. Hoffmann

    Vydáno 2007
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  14. 14
    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders Autor Roland Posset, Andrea Gropman, Sandesh C.S. Nagamani, Lindsay C. Burrage, Jirair K. Bedoyan, Derek A. Wong, Susan A. Berry, Matthias R. Baumgartner, Marc Yudkoff, Matthias Zielonka, Georg F. Hoffmann, Peter Burgard, Andreas Schulze, Shawn E. McCandless, Ángeles García‐Cazorla, Jennifer Seminara, Sven F. Garbade, Stefan Kölker

    Vydáno 2019
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  15. 15
    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases Autor Roland Posset, Sven F. Garbade, Nikolas Boy, Alberto Burlina, Carlo Dionisi‐Vici, Dries Dobbelaere, Ángeles García‐Cazorla, Pascale de Lonlay, Elisa Leão Teles, Roshni Vara, Nicholas Ah Mew, Mark L. Batshaw, Matthias R. Baumgartner, Shawn E. McCandless, Jennifer Seminara, Marshall Summar, Georg F. Hoffmann, Stefan Kölker, Peter Burgard

    Vydáno 2019
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  16. 16
    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias Autor 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

    Vydáno 2024
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  17. 17
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency Autor Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen

    Vydáno 2024
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  18. 18
    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria Autor 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

    Vydáno 2021
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  19. 19
    Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

    Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study Autor Claudia Weiß, Lena‐Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sabine Illsinger, Oliver Schwartz, G. Bernert, Maja von der Hagen, Ralf A. Husain, Klaus Goldhahn, Janbernd Kirschner, Astrid Pechmann, Marina Flotats‐Bastardas, Gudrun Schreiber, Ulrike Schara, Barbara Plecko, Regina Trollmann, Veronka Horber, Ekkehard Wilichowski, Matthias Baumann, Andrea Klein, Astrid Eisenkölbl, Cornelia Köhler, Georg M. Stettner, Sebahattin Çırak, Oswald Hasselmann, Angela M. Kaindl, Sven F. Garbade, Jessika Johannsen, Andreas Ziegler

    Vydáno 2024
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  20. 20
    Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

    Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency Autor Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, James V. Leonard, Jean-Marie Saudubray, Antònia Ribes, H. Serap Kalkanoğlu, Allan M. Lund, B. Merinero, Moacır Wajner, M. Troncoso, Monique Williams, John H. Walter, Jaume Campistol, Milagros MartÍ-Herrero, Melissa Caswill, Alberto Burlina, Florian B. Lagler, Esther M. Maier, Bernd Schwahn, Ayşegül Tokatlı, Ali Dursun, Turgay Coşkun, R. A. Chalmers, David M. Koeller, Johannes Zschocke, Ernst Christensen, Peter Burgard, Georg F. Hoffmann

    Vydáno 2006
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