Clinical Utility Gene Card For: Lesch-Nyhan Syndrome
Overview
Overview
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Citing Articles
Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.
Garcia M, Puig J, Torres R J Inherit Metab Dis. 2012; 35(6):1129-35.
PMID: 22403020 DOI: 10.1007/s10545-012-9470-5.
References
1.
Kelley W, Rosenbloom F, HENDERSON J, Seegmiller J
. A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A. 1967; 57(6):1735-9.
PMC: 224540.
DOI: 10.1073/pnas.57.6.1735.
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2.
Jinnah H, Visser J, Harris J, Verdu A, Larovere L, Ceballos-Picot I
. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006; 129(Pt 5):1201-17.
PMC: 3508431.
DOI: 10.1093/brain/awl056.
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3.
De Gregorio L, Nyhan W, Serafin E, Chamoles N
. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol Genet Metab. 2000; 69(3):263-8.
DOI: 10.1006/mgme.2000.2967.
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4.
Ogasawara N, Stout J, Goto H, Sonta S, Matsumoto A, Caskey C
. Molecular analysis of a female Lesch-Nyhan patient. J Clin Invest. 1989; 84(3):1024-7.
PMC: 329751.
DOI: 10.1172/JCI114224.
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5.
Davidson B, Tarle S, Palella T, Kelley W
. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J Clin Invest. 1989; 84(1):342-6.
PMC: 303988.
DOI: 10.1172/JCI114160.
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