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Items: 15

1.

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

Becker MA, Smith PR, Taylor W, Mustafi R, Switzer RL.

J Clin Invest. 1995 Nov;96(5):2133-41.

2.

[PRPP synthetase superactivity].

Fujimori S.

Nihon Rinsho. 1996 Dec;54(12):3309-14. Review. Japanese.

PMID:
8976111
3.

Point mutations in PRPS1, the gene encoding the PRPP synthetase (PRS) 1 isoform, underlie X-linked PRS superactivity associated with purine nucleotide inhibitor-resistance.

Becker MA, Nosal JM, Switzer RL, Smith PR, Palella TD, Roessler BJ.

Adv Exp Med Biol. 1994;370:707-10. Review. No abstract available.

PMID:
7661003
4.
5.

The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

Duley JA, Christodoulou J, de Brouwer AP.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1129-39. doi: 10.1080/15257770.2011.591747. Review.

PMID:
22132967
6.

Regulation of human PRS isoform expression.

Becker MA, Taylor W, Smith PR, Ahmed M.

Adv Exp Med Biol. 1998;431:215-20. Review. No abstract available.

PMID:
9598062
7.

Association of PRPS1 Mutations with Disease Phenotypes.

Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ.

Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Review.

8.

Recent advances in the identification of enzyme abnormalities underlying excessive purine synthesis in man.

Becker MA, Seegmiller JE.

Arthritis Rheum. 1975 Nov-Dec;18(6 Suppl):687-94. Review.

PMID:
173346
9.

PRPS1 mutations: four distinct syndromes and potential treatment.

de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J.

Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Review.

10.

Disorders of purine and pyrimidine metabolism.

Nyhan WL.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. Review.

PMID:
16176880
11.

Pediatric neurological syndromes and inborn errors of purine metabolism.

Camici M, Micheli V, Ipata PL, Tozzi MG.

Neurochem Int. 2010 Feb;56(3):367-78. doi: 10.1016/j.neuint.2009.12.003. Review.

PMID:
20005278
12.

Disorders associated with purine and pyrimidine metabolism.

Edwards NL, Fox IH.

Spec Top Endocrinol Metab. 1984;6:95-140. Review.

PMID:
6098039
13.

[Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].

Iwahana H, Itakura M.

Nihon Rinsho. 1996 Dec;54(12):3303-8. Review. Japanese.

PMID:
8976110
14.

Regulation of purine biosynthesis and turnover.

Wyngaarden JB.

Adv Enzyme Regul. 1976;14:25-42. Review. No abstract available.

PMID:
184697
15.

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D.

Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Review.

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