Ribose-5-phosphate isomerase deficiency (English Wikipedia)

Wamelink, M. M.; Grüning, N. M.; Jansen, E. E.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M. (2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". J. Mol. Med. 88 (9): 931–39. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C (December 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. S2CID 43743595.
Naik N, Shah A, Wamelink MC, van der Knaap MS, Hingwala D (September 2017). "Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy". Neurology. 89 (11): 1195–1196. doi:10.1212/WNL.0000000000004361. PMID 28801340. S2CID 9554949.
Brooks SS, Anderson S, Bhise V, Botti C (October 2018). "Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case". Journal of Child Neurology. 33 (12): 784–787. doi:10.1177/0883073818789316. PMID 30088433. S2CID 51936427.
Kaur, Parneet; Wamelink, Mirjam M. C.; Van Der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8) 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.

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Wamelink, M. M.; Grüning, N. M.; Jansen, E. E.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M. (2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". J. Mol. Med. 88 (9): 931–39. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.

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Dalling, Robert (2017-02-10). "These twins are 'trapped' in their living room as work plans stall". WalesOnline. Retrieved 2021-07-31.

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Klusmann, A.; Fleischer, W.; Waldhaus, A.; Siebler, M.; Mayatepek, E. (December 2005). "Influence of D -arabitol and ribitol on neuronal network activity". Journal of Inherited Metabolic Disease. 28 (6): 1181–1183. doi:10.1007/s10545-005-0073-2. ISSN 0141-8955. PMID 16435225.
Stone, V.; Kudo, K.Y.; August, P.M.; Marcelino, T.B.; Matté, C. (October 2014). "Polyols accumulated in ribose-5-phosphate isomerase deficiency increase mitochondrial superoxide production and improve antioxidant defenses in rats' prefrontal cortex". International Journal of Developmental Neuroscience. 37 (1): 21–25. doi:10.1016/j.ijdevneu.2014.06.009. ISSN 0736-5748. PMID 24970317.

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Klusmann, A.; Fleischer, W.; Waldhaus, A.; Siebler, M.; Mayatepek, E. (December 2005). "Influence of D -arabitol and ribitol on neuronal network activity". Journal of Inherited Metabolic Disease. 28 (6): 1181–1183. doi:10.1007/s10545-005-0073-2. ISSN 0141-8955. PMID 16435225.
Stone, V.; Kudo, K.Y.; August, P.M.; Marcelino, T.B.; Matté, C. (October 2014). "Polyols accumulated in ribose-5-phosphate isomerase deficiency increase mitochondrial superoxide production and improve antioxidant defenses in rats' prefrontal cortex". International Journal of Developmental Neuroscience. 37 (1): 21–25. doi:10.1016/j.ijdevneu.2014.06.009. ISSN 0736-5748. PMID 24970317.
Wang, Ching-Tzu; Chen, Yi-Chun; Wang, Yi-Yun; Huang, Ming-Hao; Yen, Tzu-Li; Li, Hsun; Liang, Cyong-Jhih; Sang, Tzu-Kang; Ciou, Shih-Ci; Yuh, Chiou-Hwa; Wang, Chao-Yung; Brummel, Theodore J.; Wang, Horng-Dar (February 2012). "Reduced neuronal expression of ribose-5-phosphate isomerase enhances tolerance to oxidative stress, extends lifespan, and attenuates polyglutamine toxicity in Drosophila". Aging Cell. 11 (1): 93–103. doi:10.1111/j.1474-9726.2011.00762.x. ISSN 1474-9718. PMC 3257417. PMID 22040003.
Huck, Jojanneke H. J.; Verhoeven, Nanda M.; Struys, Eduard A.; Salomons, Gajja S.; Jakobs, Cornelis; van der Knaap, Marjo S. (April 2004). "Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy". American Journal of Human Genetics. 74 (4): 745–751. doi:10.1086/383204. ISSN 0002-9297. PMC 1181951. PMID 14988808.
Kaur, Parneet; Wamelink, Mirjam M. C.; Van Der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8) 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.

Ribose-5-phosphate isomerase deficiency (English Wikipedia)

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