Arama Sonuçları - Stefan Kölker

Sonuçları Daraltın
  1. 1
    Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

    Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience Yazar: Stefan Kölker, Florian Gleich, Ulrike Mütze, Thomas Opladen

    Baskı/Yayın Bilgisi 2022
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  2. 2
    Contribution of Reactive Oxygen Species to 3-Hydroxyglutarate Neurotoxicity in Primary Neuronal Cultures from Chick Embryo Telencephalons

    Contribution of Reactive Oxygen Species to 3-Hydroxyglutarate Neurotoxicity in Primary Neuronal Cultures from Chick Embryo Telencephalons Yazar: Stefan Kölker, Barbara Ahlemeyer, Josef Krieglstein, Georg F. Hoffmann

    Baskı/Yayın Bilgisi 2001
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  3. 3
    Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

    Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases Yazar: Darius Ebrahimi‐Fakhari, Lara Wahlster, Georg F. Hoffmann, Stefan Kölker

    Baskı/Yayın Bilgisi 2013
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  4. 4
    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 Yazar: Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries

    Baskı/Yayın Bilgisi 2017
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  5. 5
    Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

    Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity Yazar: Nikolas Boy, Jana Herınger, Renate Brackmann, Olaf A. Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting

    Baskı/Yayın Bilgisi 2017
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  6. 6
    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 Yazar: Nikolas Boy, Katharina Mengler, Jana Heringer‐Seifert, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker

    Baskı/Yayın Bilgisi 2020
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  7. 7
    Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

    Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I Yazar: Sven W. Sauer, Silvana Opp, Georg F. Hoffmann, David M. Koeller, Jürgen G. Okun, Stefan Kölker

    Baskı/Yayın Bilgisi 2010
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  8. 8
    Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases

    Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases Yazar: Elaine Zaunseder, Ulrike Mütze, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Vincent Heuveline, Ines Thiele

    Baskı/Yayın Bilgisi 2024
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  9. 9
    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 Yazar: Shoko Komatsuzaki, Matthias Zielonka, William K. Mountford, Stefan Kölker, Georg F. Hoffmann, Sven F. Garbade, Markus Ries

    Baskı/Yayın Bilgisi 2019
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  10. 10
    Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

    Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data Yazar: Femke Molema, Diego Martinelli, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Koning, Carlo Dionisi‐Vici, Monique Williams

    Baskı/Yayın Bilgisi 2020
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  11. 11
    Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany

    Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany Yazar: E. Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian Schaaf, Eva C. Winkler, Beate Ditzen

    Baskı/Yayın Bilgisi 2025
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  12. 12
    Phenylalanine Reduces Synaptic Density in Mixed Cortical Cultures from Mice

    Phenylalanine Reduces Synaptic Density in Mixed Cortical Cultures from Mice Yazar: Friederike Hörster, Marina A. Schwab, Sven W. Sauer, Joachim Pietz, Georg F. Hoffmann, Jürgen G. Okun, Stefan Kölker, Stefan Kins

    Baskı/Yayın Bilgisi 2006
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  13. 13
    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 Yazar: Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, B. Heinrich, Florian Gleich, Sven F. Garbade

    Baskı/Yayın Bilgisi 2017
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  14. 14
    Deorphanization of GPR109B as a Receptor for the β-Oxidation Intermediate 3-OH-octanoic Acid and Its Role in the Regulation of Lipolysis

    Deorphanization of GPR109B as a Receptor for the β-Oxidation Intermediate 3-OH-octanoic Acid and Its Role in the Regulation of Lipolysis Yazar: Kashan Ahmed, Sorin Tunaru, Claus-Dieter Langhans, Julien Hanson, Christoph Michalski, Stefan Kölker, Peter M. Jones, Jürgen G. Okun, Stefan Offermanns

    Baskı/Yayın Bilgisi 2009
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  15. 15
    Early prediction of phenotypic severity in Citrullinemia Type 1

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

    Baskı/Yayın Bilgisi 2019
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  16. 16
    Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function

    Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function Yazar: Bruno Galy, Dunja Ferring–Appel, Sven W. Sauer, Sylvia Kaden, Saı̈d Lyoumi, Hervé Puy, Stefan Kölker, Hermann-Josef Gröne, Matthias W. Hentze

    Baskı/Yayın Bilgisi 2010
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  17. 17
    Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

    Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain ba... Yazar: Sven W. Sauer, Silvana Opp, Anne Mahringer, Marcin M. Kamiński, Christian Thiel, Jürgen G. Okun, Gert Fricker, Marina A. Morath, Stefan Kölker

    Baskı/Yayın Bilgisi 2010
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  18. 18
    Comparative analysis of gene and disease selection in genomic newborn screening studies

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

    Baskı/Yayın Bilgisi 2024
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  19. 19
    Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity

    Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity Yazar: Jürgen G. Okun, Friederike Hörster, Lilla Farkas, Patrik Feyh, Angela Hinz, Sven W. Sauer, Georg F. Hoffmann, Klaus Unsicker, Ertan Mayatepek, Stefan Kölker

    Baskı/Yayın Bilgisi 2002
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  20. 20
    Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency

    Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency Yazar: Sven W. Sauer, Jürgen G. Okun, Marina A. Schwab, Linda R. Crnic, Georg F. Hoffmann, Stephen I. Goodman, David M. Koeller, Stefan Kölker

    Baskı/Yayın Bilgisi 2005
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