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Items: 5

1.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
Marie Zikánová, Dawn Wahezi, Arielle Hay, Blanka Stibůrková, Charles Pitts, III, Dita Mušálková, Václava Škopová, Veronika Barešová, Olga Součková, Kateřina Hodaňová, Martina Živná, Viktor Stránecký, Hana Hartmannová, Ales Hnízda, Anthony J Bleyer, Stanislav Kmoch
Rheumatology (Oxford) 2018 Jul; 57(7): 1180–1185. Published online 2018 Mar 21. doi: 10.1093/rheumatology/key041
PMCID:
PMC6232955
AbstractArticlePDF–467K
2.
Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines.
M J Losman, D Rimon, M Kim, M A Becker
J Clin Invest. 1985 Oct; 76(4): 1657–1664. doi: 10.1172/JCI112151
PMCID:
PMC424156
SummaryPage BrowsePDF–1.7M
3.
The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
M A Becker, P R Smith, W Taylor, R Mustafi, R L Switzer
J Clin Invest. 1995 Nov; 96(5): 2133–2141. doi: 10.1172/JCI118267
PMCID:
PMC185862
SummaryPage BrowsePDF–2.0M
4.
Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
Arjan P. M.  de Brouwer, Kelly L.  Williams, John A.  Duley, André B. P.  van Kuilenburg, Sander B.  Nabuurs, Michael  Egmont-Petersen, Dorien  Lugtenberg, Lida  Zoetekouw, Martijn J. G.  Banning, Melissa  Roeffen, Ben C. J.  Hamel, Linda  Weaving, Robert A.  Ouvrier, Jennifer A.  Donald, Ron A.  Wevers, John  Christodoulou, Hans  van Bokhoven
Am J Hum Genet. 2007 Sep; 81(3): 507–518. Published online 2007 Aug 3. doi: 10.1086/520706
PMCID:
PMC1950830
AbstractArticlePDF–400K
5.
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.
E Zoref, A De Vries, O Sperling
J Clin Invest. 1975 Nov; 56(5): 1093–1099. doi: 10.1172/JCI108183
PMCID:
PMC301970
SummaryPage BrowsePDF–1.1M

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