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Flister, Anja [Author] ; Dhein, Stefan [Degree supervisor]; Lehmann, Sven [Degree supervisor]; Garbade, Jens [Other]; Eichfeld, Uwe [Other]Einfluss modifizierter Herz-Lungen-Maschinen-Systeme sowie einer selektiven Perfusion der Lungenstrombahn zur Verminderung der inflammatorischen Reaktion nach herzchirurgischen Operationen im Vergleich zum OPCAB-VerfahrenView onlineClose
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You can manage bookmarks using lists, please log in to your user account for this.Leipzig: Universitätsbibliothek Leipzig, 2015
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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]Delineating the clinical spectrum of isolated methylmalonic acidurias : cblA and mutView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 1, Seite 193-214
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Brennenstuhl, Heiko [Author]; Will, Manuel [Author]; Ries, Elias [Author]; Mechler, Konstantin [Author]; Garbade, Sven [Author]; Ries, Markus [Author]Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation : a cross-sectional analysis of the Emergency Events DatabaseView onlineSchließen
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Published in: BMJ open ; 11(2021), 6, Artikel-ID e046359, Seite 1-8
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Brennenstuhl, Heiko [Author]; Will, Manuel [Author]; Ries, Elias [Author]; Mechler, Konstantin [Author]; Garbade, Sven [Author]; Ries, Markus [Author]Temperature-related disasters in Europe : a cross-sectional analysis of the emergency events database from a pediatric perspectiveView onlineSchließen
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Published in: medRxiv ; (2019), Artikel-ID 19012633, Seite 1-29
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Garbade, Sven [Author]; Ederer, Viviane [Author]; Burgard, Peter [Author]; Wendel, Udo [Author]; Spiekerkötter, Ute [Author]; Haas, Dorothea [Author]; Grünert, Sarah [Author]Impact of glycogen storage disease type I on adult daily life: a surveyView onlineClose
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Published in: Orphanet journal of rare diseases ; 16 (2021), 371
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Posset, Roland [Author]; Zielonka, Matthias [Author]; Gleich, Florian [Author]; Garbade, Sven [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]The challenge of understanding and predicting phenotypic diversity in urea cycle disordersView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 46(2023), 6 vom: Nov., Seite 1007-1016
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Mütze, Ulrike [Author]; Mengler, Katharina [Author]; Boy, Nikolas [Author]; Gleich, Florian [Author]; Opladen, Thomas [Author]; Garbade, Sven [Author]; Kölker, Stefan [Author]How longitudinal observational studies can guide screening strategy for rare diseasesView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 45(2022), 5, Seite 889-901
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Schröter, Julian [Author]; Driedger, Jan Henje [Author]; Garbade, Sven [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Ries, Markus [Author]; Syrbe, Steffen [Author]Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesView onlineSchließen
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Published in: Genetics in medicine ; 23(2021), 3, Seite 516-523
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Boy, Nikolas [Author]; Mengler, Katharina [Author]; Heringer-Seifert, Jana [Author]; Hoffmann, Georg F. [Author]; Garbade, Sven [Author]; Kölker, Stefan [Author]Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1 : a meta-analysisView onlineSchließen
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Published in: Genetics in medicine ; 23(2021), 1, Seite 13-21
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Kovacevic, Alexander [Author]; Garbade, Sven [Author]; Hoffmann, Georg F. [Author]; Gorenflo, Matthias [Author]; Kölker, Stefan [Author]; Staufner, Christian [Author]Cardiac phenotype in propionic acidemia : results of an observational monocentric studyView onlineSchließen
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Published in: Molecular genetics and metabolism ; 130(2020), 1, Seite 41-48
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Nettesheim, Susanne [Author]; Kölker, Stefan [Author]; Posset, Roland [Author]; Hoffmann, Georg F. [Author]; Gleich, Florian [Author]; Garbade, Sven [Author]Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and SwitzerlandView onlineSchließen
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Published in: Orphanet journal of rare diseases ; 12(2017) Artikel-Nummer 111, 8 Seiten
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Nettesheim, Susanne [Author]; Kölker, Stefan [Author]; Posset, Roland [Author]; Hoffmann, Georg F. [Author]; Gleich, Florian [Author]; Garbade, Sven [Author]Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and SwitzerlandView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.London: BioMed Central, 15 June 2017
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Scharping, Mara [Author]; Brennenstuhl, Heiko [Author]; Garbade, Sven [Author]; Wild, Beate [Author]; Posset, Roland [Author]; Zielonka, Matthias [Author]; Kölker, Stefan [Author]; Haun, Markus W. [Author]; Opladen, Thomas [Author]Unmet needs of parents of children with Urea Cycle disordersView onlineClose
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Published in: Children ; 9(2022), 5, Artikel-ID 712, Seite 1-15
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Boy, Nikolas [Author]; Mohr, Alexander [Author]; Garbade, Sven [Author]; Freisinger, Peter [Author]; Heringer-Seifert, Jana [Author]; Seitz, Angelika [Author]; Kölker, Stefan [Author]; Harting, Inga [Author]Subdural hematoma in glutaric aciduria type 1 : high excreters are prone to incidental SDH despite newborn screeningView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 6, Seite 1343-1352$10
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Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patientsView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082
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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]Evaluation of right ventricular function in patients with propionic acidemia : a cross-sectional studyView onlineSchließen
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Published in: Children ; 10(2023), 1, Artikel-ID 113, Seite 1-13
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Garbade, Sven [Author]; Zielonka, Matthias [Author]; Mechler, Konstantin [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Staufner, Christian [Author]; Mengel, Eugen [Author]; Ries, Markus [Author]FDA orphan drug designations for lysosomal storage disorders : a cross sectional analysisView onlineSchließen
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Published in: medRxiv ; (2020), Artikel-ID 10.1101/2020.01.05.20016568, Seite 1-29
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Garbade, Sven [Author]; Zielonka, Matthias [Author]; Komatzsuzaki, Shoko [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Hinderhofer, Katrin [Author]; Mountford, William K. [Author]; Mengel, Eugen [Author]; Sláma, Tomáš [Author]; Mechler, Konstantin [Author]; Ries, Markus [Author]Quantitative retrospective natural history modeling for orphan drug developmentView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 1, Seite 99-109
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Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registryView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502
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Märtner, E.M. Charlotte [Author]; Thimm, Eva [Author]; Guder, Philipp [Author]; Schiergens, Katharina A. [Author]; Rutsch, Frank [Author]; Roloff, Sylvia [Author]; Marquardt, Iris [Author]; Das, Anibh M. [Author]; Freisinger, Peter [Author]; Grünert, Sarah C. [Author]; Krämer, Johannes [Author]; Baumgartner, Matthias R. [Author]; Beblo, Skadi [Author]; Haase, Claudia [Author]; Dieckmann, Andrea [Author]; Lindner, Martin [Author]; Näke, Andrea [Author]; Hoffmann, Georg F. [Author]; Mühlhausen, Chris [Author]; Walter, Magdalena [Author]; Garbade, Sven [Author]; Maier, Esther M. [Author]; Kölker, Stefan [Author]; Boy, Nikolas [Author]The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1 : a national prospective follow-up studyView onlineSchließen
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Published in: Scientific reports ; 11(2021), Artikel-ID 19300, Seite 1-12