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Wamelink, M. M.; Gruning, N. M.; Jansen, E. E.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M.: The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. Journal of Molecular Medicine 88 (9), S. 931 - 939 (2010)