Huck JHJ et al. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.Am J Hum Genet. 2004;74(4):745–751. PMID: 14988808.
Naik N et al. Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy.Neurology. 2017;89(11):1195-1196. PMID: 28801340.
Sklower Brooks S et al. Further delineation of ribose-5-phosphate isomerase deficiency: report of a third case.J Child Neurol. 2018;33(12):784–787. PMID: 30088433.
Kaur P et al. Confirmation of a rare genetic leukoencephalopathy due to a novel bi-allelic variant in RPIA.Eur J Med Genet. 2019;62(8):103708. PMID: 31247379.
Wamelink MMC et al. The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. J Mol Med. 2010;88(9):931–939. PMID: 20499043.
