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Wamelink, M. M. C.; Grüning, N. M.; Jansen, E. E. W.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M. (2010). "The difference between rare and exceptionally rare: Molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–939. doi:10.1007/s00109-010-0634-1. PMID 20499043.

Van Der Knaap, M. S.; Wevers, R. A.; Struys, E. A.; Verhoeven, N. M.; Pouwels, P. J.; Engelke, U. F.; Feikema, W.; Valk, J.; Jakobs, C. (1999). "Leukoencephalopathy associated with a disturbance in the metabolism of polyols". Annals of neurology. 46 (6): 925–928. doi:10.1002/1531-8249(199912)46:6<925::AID-ANA18>3.0.CO;2-J. PMID 10589548.

Huck, J. H. J.; Verhoeven, N. M.; Struys, E. A.; Salomons, G. S.; Jakobs, C.; Van Der Knaap, M. S. (2004). "Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy". The American Journal of Human Genetics. 74 (4): 745–751. doi:10.1086/383204. PMC 1181951. PMID 14988808.

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