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Items: 1 to 20 of 74

1.

Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.

Deutsch SI, Long KD, Rosse RB, Mastropaolo J, Eller J.

Clin Neuropharmacol. 2005 Jan-Feb;28(1):28-37. Review.

PMID:
15711436
3.

[Complete and partial deficiency of HPRT].

Ogasawara N.

Nihon Rinsho. 1996 Dec;54(12):3315-20. Review. Japanese.

PMID:
8976112
4.

Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.

Silverman LJ, Kelley WN, Palella TD.

Enzyme. 1987;38(1-4):36-44. Review.

PMID:
2894305
5.

Dopamine function in Lesch-Nyhan disease.

Nyhan WL.

Environ Health Perspect. 2000 Jun;108 Suppl 3:409-11. Review.

6.

[Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency].

Torres-Jiménez R, Mateos-Antón F, Arcas-Martínez J, Pascual-Castroviejo I, García-Puig J.

Rev Neurol. 1998 Dec;27(160):1050-4. Review. Spanish.

PMID:
9951034
7.

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Torres RJ, Puig JG.

Orphanet J Rare Dis. 2007 Dec 8;2:48. Review.

8.

Trophic effects of purines in neurons and glial cells.

Rathbone MP, Middlemiss PJ, Gysbers JW, Andrew C, Herman MA, Reed JK, Ciccarelli R, Di Iorio P, Caciagli F.

Prog Neurobiol. 1999 Dec;59(6):663-90. Review.

PMID:
10845757
9.

Animal models of Lesch-Nyhan syndrome.

Jinnah HA, Gage FH, Friedmann T.

Brain Res Bull. 1990 Sep;25(3):467-75. Review.

PMID:
2292045
10.

The role of the HPRT gene in human disease.

Jolly DJ.

Horiz Biochem Biophys. 1986;8:123-68. Review.

PMID:
2875930
11.

The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.

Baumeister AA, Frye GD.

Neurosci Biobehav Rev. 1985 Summer;9(2):169-78. Review.

PMID:
3925393
12.

[Treatment of Lesch-Nyhan syndrome].

De Antonio I, Torres-Jiménez R, Verdú-Pérez A, Prior de Castro C, García-Puig J.

Rev Neurol. 2002 Nov 1-15;35(9):877-83. Review. Spanish.

13.

Proposal of a guanine-based purinergic system in the mammalian central nervous system.

Schmidt AP, Lara DR, Souza DO.

Pharmacol Ther. 2007 Dec;116(3):401-16. Epub 2007 Aug 22. Review.

PMID:
17884172
14.

Disorders of purines and pyrimidines.

Kelley RE, Andersson HC.

Handb Clin Neurol. 2014;120:827-38. doi: 10.1016/B978-0-7020-4087-0.00055-3. Review.

PMID:
24365355
15.

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Sculley DG, Dawson PA, Emmerson BT, Gordon RB.

Hum Genet. 1992 Nov;90(3):195-207. Review.

PMID:
1487231
16.

Involvement of astrocytes in purine-mediated reparative processes in the brain.

Ciccarelli R, Ballerini P, Sabatino G, Rathbone MP, D'Onofrio M, Caciagli F, Di Iorio P.

Int J Dev Neurosci. 2001 Jul;19(4):395-414. Review.

PMID:
11378300
17.

The role of de novo purine synthesis in lymphocyte transformation.

Allison AC, Hovi T, Watts RW, Webster AD.

Ciba Found Symp. 1977;(48):207-24. Review.

PMID:
415850
18.

[Hypoxanthine-guanine phosphoribosyltransferase deficiency].

Arai Y, Sakuragawa N.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):460-3. Review. Japanese. No abstract available.

PMID:
9590101
19.

[Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase].

Ding H, Yue LJ, Yang CL.

Yi Chuan. 2013 Aug;35(8):948-54. Review. Chinese.

PMID:
23956083
20.

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.

Nyhan WL.

J Inherit Metab Dis. 1997 Jun;20(2):171-8. Review.

PMID:
9211189

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