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  1. Hohlfeld, Simone [Author] ; Spiekerkötter, Ute [Other]; vom Dahl, Stephan [Other]

    Klinische Präsentation und Langzeitoutcome von Patienten mit Harnstoffzyklusdefekten

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    Düsseldorf: Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2023

  2. Grünert, Sarah [Author]; Schumann, Anke [Author]; Spiekerkötter, Ute [Author]

    Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate

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    Freiburg: Universität, 2022

  3. Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author]

    The phenotypic and genetic spectrum of glycogen storage disease type VI

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    Basel: MDPI, 2021

    Published in: Genes ; 12, 8 (2021), 1205

  4. Mayorandan, Sebene [Author]; Spiekerkötter, Ute [Author]; Das, Anibh Martin [Author]

    Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

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    London: BioMed Central, 2014

    Published in: Orphanet journal of rare diseases ; 9 (2014), 107

  5. 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

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    Hoboken, NJ: Wiley, 2022

    Published in: Journal of inherited metabolic disease ; 45, 6 (2022), 1070-1081

  6. Mütze, Ulrike [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Kölker, Stefan [Author]

    Newborn screening and disease variants predictneurological outcome in isovaleric aciduria

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    Hoboken, NJ: Wiley, 2021

    Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 857-870

  7. 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

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    Hoboken, NJ: Wiley, 2020

    Published in: The FEBS journal ; 287, 16 (2020), 3511-3525

  8. 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

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    Basel: MDPI AG, 2021

    Published in: Antioxidants ; 10, 7 (2021), 1065

  9. 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

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare diseases ; 14,1 (2019), 119

  10. 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

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    London: BioMed Central, 2021

    Published in: Orphanet journal of rare diseases ; 16 (2021), 371

  11. 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

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    Hoboken, NJ: Wiley, 2021

    Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 893-902

  12. 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

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    Amsterdam: Elsevier, 2021

    Published in: Molecular genetics and metabolism reports ; 27 (2021), 100770

  13. 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

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    Hoboken, NJ: Wiley, 2021

    Published in: JIMD reports ; 57, 1 (2021), 38-43

  14. 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

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    Verlagsort: Verlag, 2020

    Published in: BMC medical genetics ; 21, 1 (2020), 12

  15. 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

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    Lausanne: Frontiers Research Foundation, 2020

    Published in: Frontiers in endocrinology ; 11 (2020), 579981

  16. Grünert, Sarah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Schumann, Anke [Author]; Schwab, Karl Otfried [Author]; Mingirulli, Nadja [Author]; Spiekerkötter, Ute [Author]

    Successful pregnancy in maple syrup urine disease : a case report and review of the literature

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    London: BioMed Central, 2018

    Published in: Nutrition journal ; 17 (2018), 51

  17. Grünert, Sarah [Author]; Wehrle, Anika [Author]; Villavicencio Lorini, Pablo [Author]; Lausch, Ekkehart [Author]; Schwab, Karl Otfried [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author]

    Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

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    London: BioMed Central, 2015

    Published in: BMC medical genetics ; 16 (2015), 56

  18. Alatibi, Khaled [Author]; Hagenbuchner, Judith [Author]; Wehbe, Zeinab [Author]; Karall, Daniela [Author]; Ausserlechner, Michael J. [Author]; Vockley, Jerry [Author]; Spiekerkötter, Ute [Author]; Grünert, Sarah [Author]; Tucci, Sara [Author]

    Different lipid signature in fibroblasts of long-chain fatty acid oxidation disorders

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    Basel: MDPI, 2021

    Published in: Cells ; 10, 5 (2021), 1239

  19. Schüle, Isabel [Author]; Berger, Urs [Author]; Matysiak, Uta [Author]; Ruzaike, Gunda [Author]; Stiller, Brigitte [Author]; Pohl, Martin [Author]; Spiekerkötter, Ute [Author]; Lausch, Ekkehart [Author]; Grünert, Sarah [Author]; Schmidts, Miriam [Author]

    A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome

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    Basel: MDPI, 2021

    Published in: Genes ; 12, 6 (2021), 879

  20. Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Rosenbaum-Fabian, Stefanie [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Grimmel, Mona [Author]; Bertrand, Miriam [Author]; Spiekerkötter, Ute [Author]

    Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families

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    Basel: MDPI, 2021

    Published in: Diagnostics ; 11, 3 (2021), 500