Search Results - Georg F. Hoffmann

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  1. 1

    23rd Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) by Gwendolyn Gramer, Jürgen G. Okun, Georg F. Hoffmann

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  2. 2

    Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS by Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler, Christian Staufner

    Published in JIMD Reports (2023-05-01)
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  3. 3

    Risk Factors for Childhood Overweight and Obesity in Ukraine and Germany by Vira Yakovenko, Laura Henn, Markus Bettendorf, Natalia Zelinska, Galyna Soloviova, Georg F. Hoffmann, Juergen Grulich-Henn

    Published in JCRPE (2019-09-01)
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  4. 4

    Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases by Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe

    Published in Orphanet Journal of Rare Diseases (2024-12-01)
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  5. 5

    Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study by Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner

    Published in Children (2023-01-01)
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  6. 6

    A novel blended and interprofessional approach to pediatric emergency training: self-assessment, perception, and perceived long-term effects by Ronny Lehmann, Michaela Klinke Petrowsky, Anke Seitz, Jochen Meyburg, Walter Eppich, Georg F. Hoffmann, Burkhard Tönshoff, Sören Huwendiek

    Published in BMC Medical Education (2024-11-01)
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  7. 7

    Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria by Elaine Zaunseder, Ulrike Mütze, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Vincent Heuveline, Stefan Kölker

    Published in Metabolites (2023-02-01)
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  8. 8

    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center by Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

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  9. 9

    Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1 by Elaine Zaunseder, Julian Teinert, Nikolas Boy, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze, Vincent Heuveline

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  10. 10

    Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases by Katharina Küper, Gernot Poschet, Julia Rossmann, Sven F. Garbade, Alexander Spiegelhalter, Dan Wen, Georg F. Hoffmann, Claus P. Schmitt, Thomas Opladen, Verena Peters

    Published in Amino Acids (2024-12-01)
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  11. 11

    A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry. by Rafael Tesorero, Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze, Jana Hauke, Kathrin Schwarz, Joachim B Kunz, Georg F Hoffmann, Jürgen G Okun

    Published in PLoS ONE (2023-01-01)
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  12. 12

    Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry by Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasouki, Pranesh Chakraborty, Fatma Aljasmi, Osama Y. Al-Dirbashi

    Published in Metabolites (2020-10-01)
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  13. 13

    Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders by Daniela Choukair, Christian Patry, Ronny Lehmann, Dorothea Treiber, Georg F. Hoffmann, Corinna Grasemann, Normi Bruck, Reinhard Berner, Peter Burgard, Hanns-Martin Lorenz, Burkhard Tönshoff

    Published in Pediatric Rheumatology Online Journal (2024-02-01)
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  14. 14

    Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation by Dorothea Haas, Jana Hauke, Kathrin V. Schwarz, Lucia Consalvi, Friedrich K. Trefz, Nenad Blau, Georg F. Hoffmann, Peter Burgard, Sven F. Garbade, Jürgen G. Okun

    Published in Metabolites (2021-10-01)
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  15. 15

    Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis by Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Olaf Sommerburg

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  16. 16

    aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl

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  17. 17

    Early prediction of phenotypic severity in Citrullinemia Type 1 by Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

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  18. 18

    Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned by Michele Zoch, Christian Gierschner, Anne-Katrin Andreeff, Elisa Henke, Martin Sedlmayr, Gabriele Müller, Jenny Tippmann, Helge Hebestreit, Daniela Choukair, Georg F. Hoffmann, Fleur Fritz-Kebede, Nicole Toepfner, Reinhard Berner, Stephanie Biergans, Raphael Verbücheln, Jannik Schaaf, Julia Fleck, Felix Nikolaus Wirth, Josef Schepers, Fabian Prasser

    Published in Digital Health (2024-07-01)
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  19. 19

    Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders by Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker

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  20. 20

    Transition for adolescents with a rare disease: results of a nationwide German project by Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair

    Published in Orphanet Journal of Rare Diseases (2023-04-01)
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