Search Results - Gleich, Florian

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  1. 1
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    Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening by Schnabel-Besson, Elena (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Grünert, Sarah C. (Author) , Krämer, Johannes (Author) , Thimm, Eva (Author) , Hennermann, Julia B. (Author) , Freisinger, Peter (Author) , Burgard, Peter (Author) , Gramer, Gwendolyn (Author) , Morath, Marina (Author) , Tuncel, Ali Tunç (Author) , Lommer-Steinhoff, Svenja (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Mütze, Ulrike (Author) ,


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  2. 2
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    Neurological outcome in long-chain hydroxy fatty acid oxidation disorders by Mütze, Ulrike (Author) , Ottenberger, Alina (Author) , Gleich, Florian (Author) , Maier, Esther M. (Author) , Lindner, Martin (Author) , Husain, Ralf (Author) , Palm, Katja (Author) , Beblo, Skadi (Author) , Freisinger, Peter (Author) , Santer, René (Author) , Thimm, Eva (Author) , Vom Dahl, Stephan (Author) , Weinhold, Natalie (Author) , Grohmann-Held, Karina (Author) , Haase, Claudia (Author) , Hennermann, Julia B. (Author) , Hörbe-Blindt, Alexandra (Author) , Kamrath, Clemens (Author) , Marquardt, Iris (Author) , Marquardt, Thorsten (Author) , Behne, Robert Stefan Friedrich (Author) , Haas, Dorothea (Author) , Spiekerkötter, Ute (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Grünert, Sarah (Author) , Kölker, Stefan (Author) ,


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  3. 3
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    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias by Reischl-Hajiabadi, Anna Theresa (Author) , Schnabel-Besson, Elena (Author) , Gleich, Florian (Author) , Mengler, Katharina (Author) , Lindner, Martin (Author) , Burgard, Peter (Author) , Posset, Roland (Author) , Lommer-Steinhoff, Svenja (Author) , Grünert, Sarah (Author) , Thimm, Eva (Author) , Freisinger, Peter (Author) , Hennermann, Julia B. (Author) , Krämer, Johannes (Author) , Gramer, Gwendolyn (Author) , Lenz, Dominic (Author) , Christ, Stine (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Mütze, Ulrike (Author) ,


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  4. 4
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    Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders by Posset, Roland (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Nagamani, Sandesh C. S. (Author) , Gropman, Andrea L. (Author) , Epp, Friederike (Author) , Ramdhouni, Nesrine (Author) , Druck, Ann-Catrin (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Zielonka, Matthias (Author) , Schulze, Andreas (Author) , García-Cazorla, Angeles (Author) , Ficicioglu, Can (Author) , Harding, Cary O. (Author) , Lam, Christina (Author) , Coughlin, Curtis R. (Author) , Le Mons, Cynthia (Author) , Wong, Derek (Author) , Dobbelaere, Dries (Author) , Diaz, George A. (Author) , Berry, Gerard T. (Author) , Enns, Gregory M. (Author) , Wilkening, Greta (Author) , Lawrence Merritt, J. (Author) , Seminara, Jennifer (Author) , Konczal, Laura (Author) , Burrage, Lindsay C. (Author) , Breilyn, Margo (Author) , Lindner, Martin (Author) , Baumgartner, Matthias R. (Author) , Mew, Nicholas Ah. (Author) , Gallagher, Renata C. (Author) , McCandless, Shawn E. (Author) , Berry, Susan A. (Author) , Stricker, Tamar (Author) ,


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  5. 5
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    Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders by Posset, Roland (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Scharré, Svenja (Author) , Okun, Jürgen G. (Author) , Gropman, Andrea L. (Author) , Nagamani, Sandesh C. S. (Author) , Druck, Ann-Catrin (Author) , Epp, Friederike (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Zielonka, Matthias (Author) ,


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  6. 6
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    Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders by Zielonka, Matthias (Author) , Kölker, Stefan (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Nagamani, Sandesh C. S. (Author) , Gropman, Andrea L. (Author) , Druck, Ann-Catrin (Author) , Ramdhouni, Nesrine (Author) , Göde, Laura (Author) , Hoffmann, Georg F. (Author) , Posset, Roland (Author) ,


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  7. 7
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    Vitamin B12 deficiency newborn screening by Mütze, Ulrike (Author) , Gleich, Florian (Author) , Haas, Dorothea (Author) , Urschitz, Michael S. (Author) , Röschinger, Wulf (Author) , Janzen, Nils (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Syrbe, Steffen (Author) , Kölker, Stefan (Author) ,


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  8. 8
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    Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening by Mengler, Katharina (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Thimm, Eva (Author) , May, Petra (Author) , Lindner, Martin (Author) , Lüsebrink, Natalia (Author) , Marquardt, Thorsten (Author) , Hübner, Vanessa (Author) , Krämer, Johannes (Author) , Neugebauer, Julia (Author) , Beblo, Skadi (Author) , Gillitzer, Claus (Author) , Grünert, Sarah C. (Author) , Hennermann, Julia B. (Author) , Kamrath, Clemens (Author) , Marquardt, Iris (Author) , Näke, Andrea (Author) , Murko, Simona (Author) , Schmidt, Sebastian (Author) , Schnabel-Besson, Elena (Author) , Lommer-Steinhoff, Svenja (Author) , Hoffmann, Georg F. (Author) , Beime, Jan (Author) , Santer, René (Author) , Kölker, Stefan (Author) , Mütze, Ulrike (Author) ,


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  9. 9
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    Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria by Schnabel-Besson, Elena (Author) , Kölker, Stefan (Author) , Gleich, Florian (Author) , Feyh, Patrik (Author) , Hörster, Friederike (Author) , Haas, Dorothea (Author) , Fang-Hoffmann, Junmin (Author) , Morath, Marina (Author) , Gramer, Gwendolyn (Author) , Röschinger, Wulf (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Okun, Jürgen G. (Author) , Mütze, Ulrike (Author) ,


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  10. 10
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    The challenge of understanding and predicting phenotypic diversity in urea cycle disorders by Posset, Roland (Author) , Zielonka, Matthias (Author) , Gleich, Florian (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) ,


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  11. 11
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    Rare disease registries are key to evidence-based personalized medicine: highlighting the european experience by Kölker, Stefan (Author) , Gleich, Florian (Author) , Mütze, Ulrike (Author) , Opladen, Thomas (Author) ,


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  12. 12
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    How longitudinal observational studies can guide screening strategy for rare diseases by Mütze, Ulrike (Author) , Mengler, Katharina (Author) , Boy, Nikolas (Author) , Gleich, Florian (Author) , Opladen, Thomas (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) ,


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  13. 13
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    Waning immunity 14 months after SARS-CoV-2 infection by Stich, Maximilian (Author) , Benning, Louise (Author) , Speer, Claudius (Author) , Garbade, Sven (Author) , Bartenschlager, Marie (Author) , Kim, Heeyoung (Author) , Gleich, Florian (Author) , Jeltsch, Kathrin (Author) , Haase, Bettina (Author) , Janda, Ales̆ (Author) , Renk, Hanna (Author) , Elling, Roland (Author) , Schnitzler, Paul (Author) , Waterboer, Tim (Author) , Hoffmann, Georg F. (Author) , Kräusslich, Hans-Georg (Author) , Müller, Barbara (Author) , Bartenschlager, Ralf (Author) , Tönshoff, Burkhard (Author) ,


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  14. 14
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    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria by Mütze, Ulrike (Author) , Henze, Lucy (Author) , Gleich, Florian (Author) , Lindner, Martin (Author) , Grünert, Sarah (Author) , Spiekerkötter, Ute (Author) , Santer, René (Author) , Blessing, Holger (Author) , Thimm, Eva (Author) , Ensenauer, Regina (Author) , Weigel, Johannes (Author) , Beblo, Skadi (Author) , Arélin, Maria (Author) , Hennermann, Julia B. (Author) , Marquardt, Thorsten (Author) , Marquardt, Iris (Author) , Freisinger, Peter (Author) , Krämer, Johannes (Author) , Dieckmann, Andrea (Author) , Weinhold, Natalie (Author) , Keller, Mareike (Author) , Walter, Magdalena (Author) , Schiergens, Katharina Anna (Author) , Maier, Esther M. (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) ,


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  15. 15
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    Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated by Mütze, Ulrike (Author) , Walter, Magdalena (Author) , Keller, Mareike (Author) , Gramer, Gwendolyn (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Haas, Dorothea (Author) , Posset, Roland (Author) , Grünert, Sarah C. (Author) , Hennermann, Julia B. (Author) , Thimm, Eva (Author) , Fang-Hoffmann, Junmin (Author) , Syrbe, Steffen (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) ,


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  16. 16
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    Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut by Hörster, Friederike (Author) , Tuncel, Ali Tunç (Author) , Gleich, Florian (Author) , Plessl, Tanja (Author) , Froese, Sean D. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Baumgartner, Matthias R. (Author) ,


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  17. 17
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    U-IMD: the first Unified European registry for inherited metabolic diseases by Opladen, Thomas (Author) , Gleich, Florian (Author) , Kozich, Viktor (Author) , Scarpa, Maurizio (Author) , Martinelli, Diego (Author) , Schaefer, Franz (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , García-Cazorla, Ángels (Author) , Dionisi-Vici, Carlo (Author) , Kölker, Stefan (Author) ,


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  18. 18
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    Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria by Brennenstuhl, Heiko (Author) , Nashawi, Mohammed (Author) , Schröter, Julian (Author) , Baronio, Federico (Author) , Beedgen, Lars (Author) , Gleich, Florian (Author) , Jeltsch, Kathrin (Author) , Landenberg, Christina von (Author) , Martini, Silvia (Author) , Simon, Anna (Author) , Thiel, Christian (Author) , Tsiakas, Konstantinos (Author) , Opladen, Thomas (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Haas, Dorothea (Author) ,


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  19. 19
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    Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis by Kožich, Viktor (Author) , Sokolová, Jitka (Author) , Morris, Andrew A. M. (Author) , Pavlíková, Markéta (Author) , Gleich, Florian (Author) , Kölker, Stefan (Author) , Krijt, Jakub (Author) , Dionisi-Vici, Carlo (Author) , Baumgartner, Matthias R. (Author) , Blom, Henk J. (Author) , Huemer, Martina (Author) ,


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  20. 20
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    Long-term effects of medical management on growth and weight in individuals with urea cycle disorders by Posset, Roland (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Gropman, Andrea L. (Author) , de Lonlay, Pascale (Author) , Hoffmann, Georg F. (Author) , Garcia-Cazorla, Angeles (Author) , Nagamani, Sandesh C. S. (Author) , Baumgartner, Matthias R. (Author) , Schulze, Andreas (Author) , Dobbelaere, Dries (Author) , Yudkoff, Marc (Author) , Kölker, Stefan (Author) , Zielonka, Matthias (Author) ,


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