Skip to contents Brüske, Sabrina Julia Dominique [Author] ; Spiekerkötter, Ute [Other]; Wieczorek, Dagmar [Other] Korrelation der Methylmalonsäurekonzentration im Urin und der Entwicklung einer chronischen Niereninsuffizienz bei Kindern mit Methylmalonazidurie Books View online Schließen > Access https://d-nb.info/1126642428/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2017 Schmidt, Lisa Elena [Author] ; Spiekerkötter, Ute [Degree supervisor]; Riedel, Wolfgang [Degree supervisor] Untersuchungen zur Lebensqualität von Kindern mit Phenylketonurie Books View online Schließen > Access https://d-nb.info/1036974472/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2013 Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other] Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten Books View online Schließen > Access https://nbn-resolving.org/urn:nbn:de:hbz:061-20231115-112400-6 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023 Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other] Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten Books View online Schließen > Access https://d-nb.info/1310128960/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023 Krogmann, Antonia [Author] ; Spiekerkötter, Ute [Other]; Keitel- Anselmino, Verena [Other] Der renale Phänotyp beim Very-Long-Chain Acyl-CoA Dehydrogenase- (VLCAD-) Mangel: Studien am VLCAD-/--Mausmodell Books View online Schließen > Access https://d-nb.info/1217062300/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2020 Baur, Simone [Author] ; Spiekerkötter, Ute [Degree supervisor]; Keitel- Anselmino, Verena [Degree supervisor] Charakterisierung Neugeborener mit dem Verdacht eines Medium- chain acyl- CoA Dehydrogenase (MCAD)- Mangels im Screening Books View online Schließen > Access https://d-nb.info/1038525977/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2013 Grünert, Sarah [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate Books View online Schließen > Access https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2310037 Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Freiburg: Universität, 2022 Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author] The phenotypic and genetic spectrum of glycogen storage disease type VI Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Genes ; 12, 8 (2021), 1205 Mayorandan, Sebene [Author]; Spiekerkötter, Ute [Author]; Das, Anibh Martin [Author] Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2014 Published in: Orphanet journal of rare diseases ; 9 (2014), 107 Grohmann-Held, Karina [Author]; Rosenbaum-Fabian, Stefanie [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2022 Published in: Journal of inherited metabolic disease ; 45, 6 (2022), 1070-1081 Mütze, Ulrike [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Newborn screening and disease variants predictneurological outcome in isovaleric aciduria Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 857-870 Alatibi, Khaled [Author]; Wehbe, Zeinab [Author]; Spiekerkötter, Ute [Author]; Tucci, Sara [Author] Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2020 Published in: The FEBS journal ; 287, 16 (2020), 3511-3525 Myszkowska, Joanna [Author]; Dereven’kov, Ilia A. [Author]; Makarov, Sergei V. [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author] Biosynthesis, quantification and genetic diseases of the smallest signaling thiol metabolite: Hydrogen sulfide Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI AG, 2021 Published in: Antioxidants ; 10, 7 (2021), 1065 Heard, Jean-Michel [Author]; Bellettato, Cinzia [Author]; Lingen, Corine van [Author]; Scarpa, Maurizio [Author]; Spiekerkötter, Ute [Author] Research activity and capability in the European reference network MetabERN Books View online Schließen > Access https://freidok.uni-freiburg.de/data/150022 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2019 Published in: Orphanet journal of rare diseases ; 14,1 (2019), 119 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 survey Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2021 Published in: Orphanet journal of rare diseases ; 16 (2021), 371 Grünert, Sarah [Author]; Eckenweiler, Matthias [Author]; Haas, Dorothea [Author]; Lindner, Martin [Author]; Tsiakas, Konstantinos [Author]; Santer, René [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author] The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 893-902 Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Successful pregnancy in a woman with glycogen storage disease type 6 Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Amsterdam: Elsevier, 2021 Published in: Molecular genetics and metabolism reports ; 27 (2021), 100770 Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Three successful pregnancies in a patient with glycogen storage disease type 0 Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: JIMD reports ; 57, 1 (2021), 38-43 Basgalupp, Suelen Porto [Author]; Siebert, Marina [Author]; Ferreira, Charles [Author]; Behringer, Sidney [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author]; Schwartz, Ida Vanessa [Author] Assessment of cellular cobalamin metabolism in Gaucher disease Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Verlagsort: Verlag, 2020 Published in: BMC medical genetics ; 21, 1 (2020), 12 Hannibal, Luciana [Author]; Theimer, Jule [Author]; Wingert, Victoria [Author]; Klotz, Katharina [Author]; Bierschenk, Iris [Author]; Nitschke, Roland [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author] Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Lausanne: Frontiers Research Foundation, 2020 Published in: Frontiers in endocrinology ; 11 (2020), 579981
Brüske, Sabrina Julia Dominique [Author] ; Spiekerkötter, Ute [Other]; Wieczorek, Dagmar [Other] Korrelation der Methylmalonsäurekonzentration im Urin und der Entwicklung einer chronischen Niereninsuffizienz bei Kindern mit Methylmalonazidurie Books View online Schließen > Access https://d-nb.info/1126642428/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2017
Schmidt, Lisa Elena [Author] ; Spiekerkötter, Ute [Degree supervisor]; Riedel, Wolfgang [Degree supervisor] Untersuchungen zur Lebensqualität von Kindern mit Phenylketonurie Books View online Schließen > Access https://d-nb.info/1036974472/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2013
Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other] Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten Books View online Schließen > Access https://nbn-resolving.org/urn:nbn:de:hbz:061-20231115-112400-6 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023
Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other] Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten Books View online Schließen > Access https://d-nb.info/1310128960/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023
Krogmann, Antonia [Author] ; Spiekerkötter, Ute [Other]; Keitel- Anselmino, Verena [Other] Der renale Phänotyp beim Very-Long-Chain Acyl-CoA Dehydrogenase- (VLCAD-) Mangel: Studien am VLCAD-/--Mausmodell Books View online Schließen > Access https://d-nb.info/1217062300/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2020
Baur, Simone [Author] ; Spiekerkötter, Ute [Degree supervisor]; Keitel- Anselmino, Verena [Degree supervisor] Charakterisierung Neugeborener mit dem Verdacht eines Medium- chain acyl- CoA Dehydrogenase (MCAD)- Mangels im Screening Books View online Schließen > Access https://d-nb.info/1038525977/34 kostenfrei Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2013
Grünert, Sarah [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate Books View online Schließen > Access https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2310037 Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Freiburg: Universität, 2022
> Access https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2310037 Full access (via DOI) Show more show less
Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author] The phenotypic and genetic spectrum of glycogen storage disease type VI Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI, 2021 Published in: Genes ; 12, 8 (2021), 1205
Mayorandan, Sebene [Author]; Spiekerkötter, Ute [Author]; Das, Anibh Martin [Author] Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2014 Published in: Orphanet journal of rare diseases ; 9 (2014), 107
Grohmann-Held, Karina [Author]; Rosenbaum-Fabian, Stefanie [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2022 Published in: Journal of inherited metabolic disease ; 45, 6 (2022), 1070-1081
Mütze, Ulrike [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author] Newborn screening and disease variants predictneurological outcome in isovaleric aciduria Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 857-870
Alatibi, Khaled [Author]; Wehbe, Zeinab [Author]; Spiekerkötter, Ute [Author]; Tucci, Sara [Author] Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2020 Published in: The FEBS journal ; 287, 16 (2020), 3511-3525
Myszkowska, Joanna [Author]; Dereven’kov, Ilia A. [Author]; Makarov, Sergei V. [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author] Biosynthesis, quantification and genetic diseases of the smallest signaling thiol metabolite: Hydrogen sulfide Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI AG, 2021 Published in: Antioxidants ; 10, 7 (2021), 1065
Heard, Jean-Michel [Author]; Bellettato, Cinzia [Author]; Lingen, Corine van [Author]; Scarpa, Maurizio [Author]; Spiekerkötter, Ute [Author] Research activity and capability in the European reference network MetabERN Books View online Schließen > Access https://freidok.uni-freiburg.de/data/150022 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2019 Published in: Orphanet journal of rare diseases ; 14,1 (2019), 119
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 survey Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. London: BioMed Central, 2021 Published in: Orphanet journal of rare diseases ; 16 (2021), 371
Grünert, Sarah [Author]; Eckenweiler, Matthias [Author]; Haas, Dorothea [Author]; Lindner, Martin [Author]; Tsiakas, Konstantinos [Author]; Santer, René [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author] The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 893-902
Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Successful pregnancy in a woman with glycogen storage disease type 6 Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Amsterdam: Elsevier, 2021 Published in: Molecular genetics and metabolism reports ; 27 (2021), 100770
Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author] Three successful pregnancies in a patient with glycogen storage disease type 0 Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2021 Published in: JIMD reports ; 57, 1 (2021), 38-43
Basgalupp, Suelen Porto [Author]; Siebert, Marina [Author]; Ferreira, Charles [Author]; Behringer, Sidney [Author]; Spiekerkötter, Ute [Author]; Hannibal, Luciana [Author]; Schwartz, Ida Vanessa [Author] Assessment of cellular cobalamin metabolism in Gaucher disease Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Verlagsort: Verlag, 2020 Published in: BMC medical genetics ; 21, 1 (2020), 12
Hannibal, Luciana [Author]; Theimer, Jule [Author]; Wingert, Victoria [Author]; Klotz, Katharina [Author]; Bierschenk, Iris [Author]; Nitschke, Roland [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author] Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease Books View online Schließen > Access Full access (via DOI) More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Lausanne: Frontiers Research Foundation, 2020 Published in: Frontiers in endocrinology ; 11 (2020), 579981
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