Search Results - Hoffmann, Georg F.

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  1. 1
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    Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases by Küper, Katharina (Author) , Poschet, Gernot (Author) , Rossmann, Julia (Author) , Garbade, Sven (Author) , Spiegelhalter, Alexander (Author) , Wen, Dan (Author) , Hoffmann, Georg F. (Author) , Schmitt, Claus P. (Author) , Opladen, Thomas (Author) , Peters, Verena (Author) ,


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  2. 2
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    Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: a meta-analysis by Scharré, Svenja (Author) , Mengler, Katharina (Author) , Schnabel-Besson, Elena (Author) , Kuseyri Hübschmann, Oya (Author) , Tuncel, Ali Tunç (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Mütze, Ulrike (Author) , Kölker, Stefan (Author) ,


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  3. 3
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    Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany by Lenz, Dominic (Author) , Abdulaziz, Muhammad (Author) , Peters, Bianca (Author) , Wagner, Matias (Author) , Schlieben, Lea D. (Author) , Corman, Victor M. (Author) , Baumann, Ulrich (Author) , Bufler, Philip (Author) , Dattner, Tal (Author) , Ganschow, Rainer (Author) , Genzel, Kristin (Author) , Hammann, Nicole Irene (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Henning, Stephan (Author) , Hoerning, André (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kathemann, Simone (Author) , Knoppke, Birgit (Author) , Kohl-Sobania, Martina (Author) , Laass, Martin (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Melter, Michael (Author) , Müller, Hanna (Author) , Pilic, Denisa (Author) , Ries, Markus (Author) , Schiefele, Lisa (Author) , Schwerd, Tobias (Author) , Sturm, Ekkehard (Author) , Wegner, Mechtild (Author) , Urschitz, Michael S. (Author) , Garbade, Sven (Author) , Wenning, Daniel (Author) , Drosten, Christian (Author) , Fichtner, Alexander (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Prokisch, Holger (Author) , Staufner, Christian (Author) ,


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  4. 4
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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 (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) , Keßler, Svenja (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Mütze, Ulrike (Author) ,


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  5. 5
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    Hepatic form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients by Hammann, Nicole Irene (Author) , Staufner, Christian (Author) , Schlieben, Lea Dewi (Author) , Dezsőfi-Gottl, Antal (Author) , Feichtinger, René G. (Author) , Häberle, Johannes (Author) , Junge, Norman (Author) , Konstantopoulou, Vassiliki (Author) , Kopajtich, Robert (Author) , McLin, Valérie (Author) , Rymen, Daisy (Author) , Slavetinsky, Christoph (Author) , Sturm, Ekkehard (Author) , Mayr, Johannes A. (Author) , Wagner, Matias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Hoffmann, Georg F. (Author) , Lenz, Dominic (Author) ,


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  6. 6
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    Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated by Peacock, Dakota (Author) , Ferreira, Carlos R. (Author) , Horvath, Gabriella (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Ebrahimi-Fakhari, Darius (Author) ,


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  7. 7
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    Hepatic phenotype in NBAS-associated disease: clinical course, prognostic factors and outcome in 230 patients by Peters, Bianca (Author) , Schlieben, Lea Dewi (Author) , Brennenstuhl, Heiko (Author) , Arikan, Cigdem (Author) , Bedoyan, Sarah M. (Author) , Bulut, Fatma Derya (Author) , Crushell, Ellen (Author) , Dionisi-Vici, Carlo (Author) , Drab, Ada (Author) , Fichtner, Alexander (Author) , Garcia, Aixa Gonzalez (Author) , Fry, Deanna (Author) , Garbade, Sven (Author) , Hammann, Nicole Irene (Author) , Hadzic, Nedim (Author) , Hegarty, Robert (Author) , Jørgensen, Marianne Hørby (Author) , Laaß, Martin (Author) , Lainka, Elke (Author) , Leghlam, Lina (Author) , Lurz, Eberhard (Author) , Mungan, Halise Neslihan Önenli (Author) , Pietrobattista, Andrea (Author) , Polo, Begona (Author) , Socha, Piotr (Author) , Squires, James E. (Author) , Sun, Tian (Author) , Vogel, Georg F. (Author) , Prokisch, Holger (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) , Lenz, Dominic (Author) ,


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  8. 8
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    Author correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findin... by Schmidt, Axel (Author) , Hempel, Maja (Author) , Tibelius, Alexandra (Author) , Schwaibold, Eva (Author) , Schaaf, Christian P. (Author) , Zawada, Michal (Author) , Kaufmann, Lilian (Author) , Hinderhofer, Katrin (Author) , Okun, Pamela M. (Author) , Kotzaeridou, Urania (Author) , Hoffmann, Georg F. (Author) , Choukair, Daniela (Author) , Bettendorf, Markus (Author) ,


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  9. 9
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    Fat embolism syndrome in Duchenne muscular dystrophy: report on a novel case and systematic literature review by Specht, Sabine (Author) , Zhukova, Irina (Author) , Westhoff, Jens (Author) , Erb, Larissa Diana (Author) , Ziegler, Andreas (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Hagmann, Sébastien (Author) , Syrbe, Steffen (Author) ,


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  10. 10
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    ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae by Seidl, Marie (Author) , Scharré, Svenja (Author) , Posset, Roland (Author) , Druck, Ann-Catrin (Author) , Epp, Friederike (Author) , Okun, Jürgen G. (Author) , Dimitrov, Bianca (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Zielonka, Matthias (Author) ,


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  11. 11
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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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  12. 12
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    Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases by Zaunseder, Elaine (Author) , Mütze, Ulrike (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Heuveline, Vincent (Author) , Thiele, Ines (Author) ,


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  13. 13
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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) , Keßler, 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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  14. 14
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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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  15. 15
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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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  16. 16
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    Genetic landscape of pediatric acute liver failure of indeterminate origin by Lenz, Dominic (Author) , Schlieben, Lea D. (Author) , Shimura, Masaru (Author) , Bianzano, Alyssa (Author) , Smirnov, Dmitrii (Author) , Kopajtich, Robert (Author) , Berutti, Riccardo (Author) , Adam, Rüdiger (Author) , Aldrian, Denise (Author) , Baric, Ivo (Author) , Baumann, Ulrich (Author) , Bozbulut, Neslihan E. (Author) , Brugger, Melanie (Author) , Brunet, Theresa (Author) , Bufler, Philip (Author) , Burnytė, Birutė (Author) , Calvo, Pier L. (Author) , Crushell, Ellen (Author) , Dalgiç, Buket (Author) , Das, Anibh M. (Author) , Dezsőfi, Antal (Author) , Distelmaier, Felix (Author) , Fichtner, Alexander (Author) , Freisinger, Peter (Author) , Garbade, Sven (Author) , Gaspar, Harald (Author) , Goujon, Louise (Author) , Hadzic, Nedim (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Hempel, Maja (Author) , Henning, Stephan (Author) , Hoerning, Andre (Author) , Houwen, Roderick (Author) , Hughes, Joanne (Author) , Iorio, Raffaele (Author) , Iwanicka-Pronicka, Katarzyna (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kanavaki, Ino (Author) , Kansu, Aydan (Author) , Kaspar, Sonja (Author) , Kathemann, Simone (Author) , Kelly, Deidre (Author) , Kirsaçlioğlu, Ceyda T. (Author) , Knoppke, Birgit (Author) , Kohl, Martina (Author) , Kölbel, Heike (Author) , Kölker, Stefan (Author) , Konstantopoulou, Vassiliki (Author) , Krylova, Tatiana (Author) , Kuloğlu, Zarife (Author) , Kuster, Alice (Author) , Laass, Martin W. (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Mandel, Hanna (Author) , Mayerhanser, Katharina (Author) , Mayr, Johannes A. (Author) , McKiernan, Patrick (Author) , McClean, Patricia (Author) , McLin, Valerie (Author) , Mention, Karine (Author) , Müller, Hanna (Author) , Pasquier, Laurent (Author) , Pavlov, Martin (Author) , Pechatnikova, Natalia (Author) , Peters, Bianca (Author) , Petković Ramadža, Danijela (Author) , Piekutowska-Abramczuk, Dorota (Author) , Pilic, Denisa (Author) , Rajwal, Sanjay (Author) , Rock, Nathalie (Author) , Roetig, Agnès (Author) , Santer, René (Author) , Schenk, Wilfried (Author) , Semenova, Natalia (Author) , Sokollik, Christiane (Author) , Sturm, Ekkehard (Author) , Taylor, Robert W. (Author) , Tschiedel, Eva (Author) , Urbonas, Vaidotas (Author) , Urreizti, Roser (Author) , Vermehren, Jan (Author) , Vockley, Jerry (Author) , Vogel, Georg-Friedrich (Author) , Wagner, Matias (Author) , van der Woerd, Wendy (Author) , Wortmann, Saskia B. (Author) , Zakharova, Ekaterina (Author) , Hoffmann, Georg F. (Author) , Meitinger, Thomas (Author) , Murayama, Kei (Author) , Staufner, Christian (Author) , Prokisch, Holger (Author) ,


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  17. 17
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    Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex by Sandmann, Christoph (Author) , Syrbe, Steffen (Author) , Hebe, Joachim (Author) , Kreft, Jannis (Author) , Stark, Sebastian (Author) , Milde, Till (Author) , Völkers, Mirko (Author) , Hoffmann, Georg F. (Author) , Gorenflo, Matthias (Author) , Kovacevic, Alexander (Author) ,


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  18. 18
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    Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease by Hammann, Nicole Irene (Author) , Lenz, Dominic (Author) , Baric, Ivo (Author) , Crushell, Ellen (Author) , Vici, Carlo Dionisi (Author) , Distelmaier, Felix (Author) , Feillet, Francois (Author) , Freisinger, Peter (Author) , Hempel, Maja (Author) , Khoreva, Anna L. (Author) , Laass, Martin W. (Author) , Lacassie, Yves (Author) , Lainka, Elke (Author) , Larson-Nath, Catherine (Author) , Li, Zhongdie (Author) , Lipiński, Patryk (Author) , Lurz, Eberhard (Author) , Mégarbané, André (Author) , Nobre, Susana (Author) , Olivieri, Giorgia (Author) , Peters, Bianca (Author) , Prontera, Paolo (Author) , Schlieben, Lea D. (Author) , Seroogy, Christine M. (Author) , Sobacchi, Cristina (Author) , Suzuki, Shigeru (Author) , Tran, Christel (Author) , Vockley, Jerry (Author) , Wang, Jian-She (Author) , Wagner, Matias (Author) , Prokisch, Holger (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) ,


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  19. 19
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    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings by Schmidt, Axel (Author) , Danyel, Magdalena (Author) , Grundmann-Hauser, Kathrin (Author) , Brunet, Theresa (Author) , Klinkhammer, Hannah (Author) , Hsieh, Tzung-Chien (Author) , Engels, Hartmut (Author) , Schlapakow, Elena (Author) , Hempel, Maja (Author) , Tibelius, Alexandra (Author) , Schwaibold, Eva (Author) , Schaaf, Christian P. (Author) , Zawada, Michal (Author) , Kaufmann, Lilian (Author) , Hinderhofer, Katrin (Author) , Okun, Pamela M. (Author) , Kotzaeridou, Urania (Author) , Hoffmann, Georg F. (Author) , Choukair, Daniela (Author) , Bettendorf, Markus (Author) ,


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  20. 20
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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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