Hasil Pencarian - Roland Posset

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  1. 1
    Unmet Needs of Parents of Children with Urea Cycle Disorders

    Unmet Needs of Parents of Children with Urea Cycle Disorders oleh Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun, Thomas Opladen

    Diterbitkan 2022-05-01
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  2. 2
    Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

    Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa... oleh Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër

    Diterbitkan 2021-05-01
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  3. 3
    Early prediction of phenotypic severity in Citrullinemia Type 1

    Early prediction of phenotypic severity in Citrullinemia Type 1 oleh 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

    Diterbitkan 2019-09-01
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  4. 4
    Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

    Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency oleh Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

    Diterbitkan 2022-11-01
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  5. 5
    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 oleh Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)

    Diterbitkan 2017-06-01
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