Works by Steuerwald, Ulrike


Results: 20
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    Neonatal screening for citrullinaemia.

    Published in:
    2003
    By:
    • Sander, Johannes;
    • Janzen, Nils;
    • Sander, Stefanie;
    • Steuerwald, Ulrike;
    • Das, Anibh M.;
    • Scholl, Sabine;
    • K.Trefz, Friedrich;
    • Koch, Hans-Georg;
    • Häberle, Johannes;
    • Korall, Herbert;
    • Marquardt, Iris;
    • Korenke, Christoph;
    • Trefz, Friedrich K
    Publication type:
    journal article
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    Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
    By:
    • Maier, Esther M.;
    • Mütze, Ulrike;
    • Janzen, Nils;
    • Steuerwald, Ulrike;
    • Nennstiel, Uta;
    • Odenwald, Birgit;
    • Schuhmann, Elfriede;
    • Lotz‐Havla, Amelie S.;
    • Weiss, Katharina J.;
    • Hammersen, Johanna;
    • Weigel, Corina;
    • Thimm, Eva;
    • Grünert, Sarah C.;
    • Hennermann, Julia B.;
    • Freisinger, Peter;
    • Krämer, Johannes;
    • Das, Anibh M.;
    • Illsinger, Sabine;
    • Gramer, Gwendolyn;
    • Fang‐Hoffmann, Junmin
    Publication type:
    Article
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    Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 226, doi. 10.1002/jimd.12302
    By:
    • Hoogeveen, Irene J.;
    • Boer, Foekje;
    • Boonstra, Willemijn F.;
    • Schaaf, Caroline J.;
    • Steuerwald, Ulrike;
    • Sibeijn‐Kuiper, Anita J.;
    • Vegter, Riemer J. K.;
    • Hoeven, Johannes H.;
    • Heiner‐Fokkema, M. Rebecca;
    • Clarke, Kieran C.;
    • Cox, Pete J.;
    • Derks, Terry G. J.;
    • Jeneson, Jeroen A. L.
    Publication type:
    Article
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    Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 697, doi. 10.1007/s10545-016-9932-2
    By:
    • Sentner, Christiaan;
    • Hoogeveen, Irene;
    • Weinstein, David;
    • Santer, René;
    • Murphy, Elaine;
    • McKiernan, Patrick;
    • Steuerwald, Ulrike;
    • Beauchamp, Nicholas;
    • Taybert, Joanna;
    • Laforêt, Pascal;
    • Petit, François;
    • Hubert, Aurélie;
    • Labrune, Philippe;
    • Smit, G.;
    • Derks, Terry
    Publication type:
    Article
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    Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

    Published in:
    Pediatric Blood & Cancer, 2010, v. 54, n. 5, p. 758, doi. 10.1002/pbc.22390
    By:
    • Kordes, Uwe;
    • Richter, Andrea;
    • Santer, Rene;
    • Schäfer, Hansjörg;
    • Singer, Dominique;
    • Sonntag, Josef;
    • Steuerwald, Ulrike;
    • Schneppenheim, Reinhard;
    • Janka, Gritta
    Publication type:
    Article
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    SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 862, doi. 10.1093/brain/awl389
    By:
    • Rosalba Carrozzo;
    • Carlo Dionisi-Vici;
    • Ulrike Steuerwald;
    • Simona Lucioli;
    • Federica Deodato;
    • Sivia Di Giandomenico;
    • Enrico Bertini;
    • Barbara Franke;
    • Leo A. J. Kluijtmans;
    • Maria Chiara Meschini;
    • Cristiano Rizzo;
    • Fiorella Piemonte;
    • Richard Rodenburg;
    • René Santer;
    • Filippo M. Santorelli;
    • Arno van Rooij;
    • Diana Vermunt-de Koning;
    • Eva Morava;
    • Ron A. Wevers
    Publication type:
    Article
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    PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237
    By:
    • Pelet, Anna;
    • Skopova, Vaclava;
    • Steuerwald, Ulrike;
    • Baresova, Veronika;
    • Zarhrate, Mohammed;
    • Plaza, Jean-Marc;
    • Hnizda, Ales;
    • Krijt, Matyas;
    • Souckova, Olga;
    • Wibrand, Flemming;
    • Andorsdóttir, Guðrið;
    • Joensen, Fróði;
    • Sedlak, David;
    • Bleyer, Anthony J;
    • Kmoch, Stanislav;
    • Lyonnet, Stanislas;
    • Zikanova, Marie
    Publication type:
    Article