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    2 résultats 1
    Postprint
    Consortium of Swiss Academic Libraries

    Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

    Burda, P. ; Kuster, A. ; Hjalmarson, O. ; Suormala, T. ; Bürer, C. ; Lutz, S. ; Roussey, G. ; Christa, L. ; Asin-Cayuela, J. ; Kollberg, G. ; Andersson, B. ; Watkins, D. ; Rosenblatt, D. ; Fowler, B. ; Holme, E. ; Froese, D. ; Baumgartner, M.

    In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 863-872

    Postprint
    Consortium of Swiss Academic Libraries

    Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

    Huemer, M. ; Bürer, C. ; Ješina, P. ; Kožich, V. ; Landolt, M. ; Suormala, T. ; Fowler, B. ; Augoustides- Savvopoulou, P. ; Blair, E. ; Brennerova, K. ; Broomfield, A. ; De Meirleir, L. ; Gökcay, G. ; Hennermann, J. ; Jardine, P. ; Koch, J. ; Lorenzl, S. ; Lotz-Havla, A. ; Noss, J. ; Parini, R. ; Peters, H. ; Plecko, B. ; Ramos, F. ; Schlune, A. ; Tsiakas, K. ; Zerjav Tansek, M. ; Baumgartner, M.

    In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 957-967

    2 résultats 1