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Mathis, Déborah; Croft, Joanne; Chrastina, Petr; Fowler, Brian; Vianey-Saban, Christine; Ruijter, George J G (2022). The role of ERNDIM Diagnostic Proficiency Schemes in improving the quality of diagnostic testing for Inherited Metabolic Diseases. Journal of inherited metabolic disease, 45(5), pp. 926-936. Wiley 10.1002/jimd.12523
Schmidt, Eva; Nuoffer, Jean-Marc; Häberle, Johannes; Pauli, Silke; Guffon, Nathalie; Vianey-Saban, Christine; Wermuth, Bendicht; Koch, Hans Georg (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et biophysica acta - molecular basis of disease, 1740(1), pp. 54-59. Elsevier 10.1016/j.bbadis.2005.02.006
