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Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
Arthritis Rheum. 2003 Jul;48(7):2036-41. doi: 10.1002/art.11058.
Arthritis Rheum. 2003.
PMID: 12847698
Free article.
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
de Brouwer AP, et al.
Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3.
Am J Hum Genet. 2007.
PMID: 17701896
Free PMC article.
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