Recommendations for the management of tyrosinaemia type 1 von de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute

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SSIEM 2022 Annual Symposium in Freiburg, Germany von Spiekerkoetter, Ute

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In Reply von Spiekerkötter, Ute

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In Reply von Spiekerkötter, Ute

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In Reply von Spiekerkötter, Ute

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Correspondence von Spiekerkötter, Ute

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Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients von Herebian, Diran, Spiekerkötter, Ute, Lamshöft, Marc, Thimm, Eva, Laryea, Maurice, Mayatepek, Ertan

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Target diseases for neonatal screening in Germany—challenges for treatment and long-term care von Spiekerkötter, Ute, Krude, Heiko

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Cystic renal dysplasia as a leading sign of inherited metabolic disease von Distelmaier, Felix, Vogel, Markus, Spiekerkötter, Ute, Gempel, Klaus, Klee, Dirk, Braunstein, Stefan, Groneck, Heinz-Peter, Mayatepek, Ertan, Wendel, Udo, Schwahn, Bernd

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Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria von Grohmann‐Held, Karina, Burgard, Peter, Baerwald, Christoph G. O., Beblo, Skadi, Dahl, Stephan, Das, Anibh, Dokoupil, Katharina, Fleissner, Sandra, Freisinger, Peter, Heddrich‐Ellerbrok, Margret, Jung, Alexandra, Korpel, Vanessa, Krämer, Johannes, Lier, Dinah, Maier, Esther M., Meyer, Uta, Mühlhausen, Chris, Newger, Martha, Och, Ulrike, Plöckinger, Ursula, Rosenbaum‐Fabian, Stefanie, Rutsch, Frank, Santer, René, Schick, Petra, Schwarz, Martin, Spiekerkötter, Ute, Strittmatter, Ursula, Thiele, Alena G., Ziagaki, Athanasia, Mütze, Ulrike, Gleich, Florian, Garbade, Sven F., Kölker, Stefan

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Neugeborenes mit Trinkschwäche und Somnolenz am 2. Lebenstag: Vorbereitung auf die Facharztprüfung: Fall 40 von Schumann, Anke, Grünert, Sarah, Spiekerkötter, Ute

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency von Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick F., Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Demirkol, Mübeccel, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew A., Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rossella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian C., Sperl, Wolfgang, Spiekerkoetter, Ute, Steinmann, Beat, Taddeucci, Grazia, Trejo-Gabriel-Galán, Jose M., Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian

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Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders von Meyburg, Jochen, Opladen, Thomas, Spiekerkötter, Ute, Schlune, Andrea, Schenk, Jens-Peter, Schmidt, Jan, Weitz, Jürgen, Okun, Jürgen, Bürger, Friederike, Omran, Tawfeg Ben, Abdoh, Ghassan, Al Rifai, Hilal, Monavari, Ahmad, Konstantopoulou, Vassiliki, Kölker, Stefan, Yudkoff, Marc, Hoffmann, Georg F.

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Three successful pregnancies in a patient with glycogen storage disease type 0 von Grünert, Sarah C., Rosenbaum‐Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute

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Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies von Hoefs, Saskia J.G., Skjeldal, Ola H., Rodenburg, Richard J., Nedregaard, Bård, van Kaauwen, Edwin P.M., Spiekerkötter, Ute, von Kleist-Retzow, Jürgen-Christoph, Smeitink, Jan A.M., Nijtmans, Leo G., van den Heuvel, Lambert P.

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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment von Stadler, Sonja C., Polanetz, Roman, Maier, Esther M., Heidenreich, Sylvia C., Niederer, Birgit, Mayerhofer, Peter U., Lagler, Florian, Koch, Hans-Georg, Santer, René, Fletcher, Janice M., Ranieri, Enzo, Das, Anibh M., Spiekerkötter, Ute, Schwab, Karl O., Pötzsch, Simone, Marquardt, Iris, Hennermann, Julia B., Knerr, Ina, Mercimek-Mahmutoglu, Saadet, Kohlschmidt, Nicolai, Liebl, Bernhard, Fingerhut, Ralph, Olgemöller, Bernhard, Muntau, Ania C., Roscher, Adelbert A., Röschinger, Wulf

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MR Imaging of Bone Marrow in Glycogen Storage Disease Type IB in Children and Young Adults von Scherer, Axel, Engelbrecht, Volkher, Neises, Gudrun, May, Philip, Balsam, Alexander, Spiekerkotter, Ute, Wendel, Udo, Modder, Ulrich

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Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids : Biochemical confirmation of fatty acid oxida... von SCHULZE-BERGKAMEN, Andrea, OKUN, Jürgen G, HOFFMANN, Georg F, KOLKER, Stefan, SPIEKERKÖTTER, Ute, LINDNER, Martin, HAAS, Dorothea, KOHLMÜLLER, Dirk, MAYATEPEK, Ertan, SCHULZE-BERGKAMEN, Henning, GREENBERG, Cheryl R, ZSCHOCKE, Johannes

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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment von Stadler, Sonja C., Polanetz, Roman, Maier, Esther M., Heidenreich, Sylvia C., Niederer, Birgit, Mayerhofer, Peter U., Lagler, Florian, Koch, Hans-Georg, Santer, René, Fletcher, Janice M., Ranieri, Enzo, Das, Anibh M., Spiekerkötter, Ute, Schwab, Karl O., Pötzsch, Simone, Marquardt, Iris, Hennermann, Julia B., Knerr, Ina, Mercimek-Mahmutoglu, Saadet, Kohlschmidt, Nicolai, Liebl, Bernhard, Fingerhut, Ralph, Olgemöller, Bernhard, Muntau, Ania C., Roscher, Adelbert A., Röschinger, Wulf

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Three successful pregnancies in a patient with glycogen storage disease type 0 von Grünert, Sarah C, Rosenbaum-Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute

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