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Diserens, Gaëlle; Vermathen, Martina; Gjuroski, Ilche; Eggimann, Sandra; Precht, Maria Christina; Boesch, Christoph Hans; Vermathen, Peter (2016). Direct determination of phosphate sugars in biological material by 1H high-resolution magic-angle-spinning NMR spectroscopy. Analytical and bioanalytical chemistry, 408(20), pp. 5651-5656. Springer 10.1007/s00216-016-9671-0
Hu, Liyan; Pandey, Amit Vikram; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of inherited metabolic disease, 38(5), pp. 815-827. Springer 10.1007/s10545-014-9807-3
Gautschi, Matthias; Eggimann, Sandra; Nuoffer, Jean-Marc (2014). Current role of enzyme analysis for urea cycle disorders. Journal of Pediatric Biochemistry, 4(1), pp. 23-32. IOS Press 10.3233/JPB-140103
Hu, Liyan; Pandey, Amit Vikram; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of biological chemistry, 288(48), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128
Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of inherited metabolic disease, 35(1), pp. 133-40. Lancaster, UK: Springer Netherlands 10.1007/s10545-011-9357-x
Diserens, Gaëlle; Hertig, Damian; Eggimann, Sandra; Vermathen, Martina; Furrer, Julien; Nuoffer, Jean-Marc; Vermathen, Peter (27 June 2016). Improving the metabolic stability of cultured cells during extended HR-MAS NMR measurements by prior heating (Unpublished). In: 12th Annual Conference of the Metabolomics Society. Dublin, Ireland. 27.-30.06.2016.
Eggimann, Sandra; Diserens, Gaëlle; Hertig, Damian; Vermathen, Martina; Furrer, Julien; Vermathen, Peter; Nuoffer, Jean-Marc (September 2015). Metabolic investigations of intact fibroblasts by 1H HR-MAS NMR Spectroscopy (Unpublished). In: SSIEM “Society for the Study of Inborn Errors of Metabolism” Annual Symposium. Lyon, France. 01.-04.09.2015.
Diserens, Gaëlle; Vermathen, Martina; Gjuroski, Ilche; Eggimann, Sandra; Precht, Maria Christina; Boesch, Christoph Hans; Vermathen, Peter (2015). Direct determination of phosphate sugars in biological material by 1H High Resolution-Magic Angle Spinning (HR-MAS) NMR spectroscopy. In: ISMRM. International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition. Proceedings: Vol. 23 (p. 1987). International Society for Magnetic Resonance in Medicine
