Search Results - Hörster, Friederike

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  1. 1
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    Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion by Mütze, Ulrike (Author) , Scharré, Svenja (Author) , Schnabel-Besson, Elena (Author) , Kuseyri Hübschmann, Oya (Author) , Hörster, Friederike (Author) , Tuncel, Ali Tunç (Author) , Kölker, Stefan (Author) , Opladen, Thomas (Author) ,


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  2. 2
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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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  3. 3
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    Newborn screening for aromatic l-amino acid decarboxylase deficiency: strategies, results, and implication for prevalence calculations by Reischl-Hajiabadi, Anna Theresa (Author) , Okun, Jürgen G. (Author) , Kohlmüller, Dirk (Author) , Manukjan, Georgi (Author) , Hegert, Sebastian (Author) , Durner, Jürgen (Author) , Schuhmann, Elfriede (Author) , Hörster, Friederike (Author) , Mütze, Ulrike (Author) , Feyh, Patrik (Author) , Hoffmann, Georg F. (Author) , Röschinger, Wulf (Author) , Janzen, Nils (Author) , Opladen, Thomas (Author) ,


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  4. 4
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    Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter: Stellungnahme der Screeningkommission der Deutschen Gesellschaft für Kinder- und Jugendmedizin by Blankenstein, Oliver (Author) , Härtel, Christoph (Author) , Hoefele, Julia (Author) , Hoffmann, Georg F. (Author) , Hörster, Friederike (Author) , Lawrenz, Burkhard (Author) , Lotz-Havla, Amelie (Author) , Maier, Esther (Author) , Sommerburg, Olaf (Author) , Speckmann, Carsten (Author) , Urschitz, Michael S. (Author) ,


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  5. 5
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    Clinical practice recommendations on kidney management in methylmalonic acidemia: an expert consensus statement from ERKNet and MetabERN by Servais, Aude (Author) , Zacchia, Miriam (Author) , Dehoux, Laurène (Author) , Shroff, Rukshana (Author) , Brassier, Anais (Author) , Taurisano, Roberta (Author) , Kölker, Stefan (Author) , Oh, Jun (Author) , Ariceta, Gema (Author) , Stojanovic, Jelena (Author) , Hörster, Friederike (Author) , Strologo, Dello (Author) , Spada, Marco (Author) , Schiff, Manuel (Author) , Dionisi-Vici, Carlo (Author) ,


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  6. 6
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    Evaluation of right ventricular function in patients with propionic acidemia: a cross-sectional study by Kovacevic, Alexander (Author) , Garbade, Sven (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Gorenflo, Matthias (Author) , Mereles, Derliz (Author) , Kölker, Stefan (Author) , Staufner, Christian (Author) ,


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  7. 7
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    A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry by Tesorero, Rafael (Author) , Janda, Joachim (Author) , Hörster, Friederike (Author) , Feyh, Patrik (Author) , Mütze, Ulrike (Author) , Hauke, Jana (Author) , Schwarz, Kathrin (Author) , Kunz, Joachim (Author) , Hoffmann, Georg F. (Author) , Okun, Jürgen G. (Author) ,


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  8. 8
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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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  9. 9
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    High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen = Hochdurchsatz-Neugeborenenscreening auf Sichelzellk... by Janda, Joachim (Author) , Hegert, Sebastian (Author) , Bzdok, Jessica (Author) , Tesorero, Rafael (Author) , Holtkamp, Ute (Author) , Burggraf, Siegfried (Author) , Schuhmann, Elfriede (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Janzen, Nils (Author) , Okun, Jürgen G. (Author) , Becker, Marc (Author) , Durner, Jürgen (Author) ,


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  10. 10
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    Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency by Götz, Maren (Author) , Schröter, Julian (Author) , Dattner, Tal (Author) , Brennenstuhl, Heiko (Author) , Lenz, Dominic (Author) , Opladen, Thomas (Author) , Hörster, Friederike (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Staufner, Christian (Author) ,


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  11. 11
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    Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study by Kovacevic, Alexander (Author) , Garbade, Sven (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Gorenflo, Matthias (Author) , Mereles, Derliz (Author) , Kölker, Stefan (Author) , Staufner, Christian (Author) ,


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  12. 12
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    Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: a multicenter analysis by Dello Strologo, Luca (Author) , Spada, Marco (Author) , Vici, Carlo Dionisi (Author) , Atti, Marta Ciofi Degli (Author) , Rheault, Michelle (Author) , Bjerre, Anna Kristina (Author) , Boyer, Olivia (Author) , Calvo, Pier Luigi (Author) , D'Antiga, Lorenzo (Author) , Harshman, Lyndsay A. (Author) , Hörster, Friederike (Author) , Kölker, Stefan (Author) , Jahnukainen, Timo (Author) , Knops, Noël (Author) , Krug, Pauline (Author) , Krupka, Kai (Author) , Lee, Angela (Author) , Levtchenko, Elena (Author) , Marks, Stephen D. (Author) , Stojanovic, Jelena (Author) , Martelli, Laura (Author) , Mazariegos, George (Author) , Montini, Giovanni (Author) , Shenoy, Mohan (Author) , Sidhu, Sangeet (Author) , Tangeras, Trine (Author) , Testa, Sara (Author) , Vijay, Suresh (Author) , Wac, Katarzyna (Author) , Wennberg, Lars (Author) , Concepcion, Waldo (Author) , Garbade, Sven (Author) , Tönshoff, Burkhard (Author) ,


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  13. 13
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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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  14. 14
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    Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: an overview on European data by Molema, Femke (Author) , Martinelli, Diego (Author) , Hörster, Friederike (Author) , Kölker, Stefan (Author) , Tangeraas, Trine (Author) , Koning, Barbara de (Author) , Dionisi-Vici, Carlo (Author) , Williams, Monique (Author) ,


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  15. 15
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    Long-term outcomes of individuals with metabolic diseases identified through newborn screening by Mütze, Ulrike (Author) , Garbade, Sven (Author) , Gramer, Gwendolyn (Author) , Lindner, Martin (Author) , Freisinger, Peter (Author) , Grünert, Sarah (Author) , Hennermann, Julia (Author) , Ensenauer, Regina (Author) , Thimm, Eva (Author) , Zirnbauer, Judith (Author) , Leichsenring, Michael (Author) , Gleich, Florian (Author) , Hörster, Friederike (Author) , Grohmann-Held, Karina (Author) , Boy, Nikolas (Author) , Fang-Hoffmann, Junmin (Author) , Burgard, Peter (Author) , Walter, Magdalena (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) ,


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  16. 16
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    Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth re... by Molema, Femke (Author) , Burgard, Peter (Author) , Kölker, Stefan (Author) , Hörster, Friederike (Author) , Posset, Roland (Author) ,


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  17. 17
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    Organic acidurias in adults: late complications and management by Tuncel, Ali Tunç (Author) , Boy, Nikolas (Author) , Morath, Marina (Author) , Hörster, Friederike (Author) , Mütze, Ulrike (Author) , Kölker, Stefan (Author) ,


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  18. 18
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    Progressive deafness-dystonia due to SERAC1 mutations: a study of 67 cases by Maas, Roeltje R (Author) , Hörster, Friederike (Author) , Staufner, Christian (Author) ,


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  19. 19
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    The phenotypic spectrum of organic acidurias and urea cycle disorders: part 2 : the evolving clinical phenotype by Kölker, Stefan (Author) , Boy, Nikolas (Author) , Burgard, Peter (Author) , Gleich, Florian (Author) , Hörster, Friederike (Author) , Haege, Gisela (Author) ,


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  20. 20
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    Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders: part 2 : the evolving clinical phenotype by Kölker, Stefan (Author) , Boy, Nikolas (Author) , Burgard, Peter (Author) , Gleich, Florian (Author) , Hörster, Friederike (Author) , Haege, Gisela (Author) ,


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