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Items: 1 to 20 of 154

1.

Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.

Yamaoka N, Inazawa K, Inagawa S, Yasuda M, Mawatari K, Nakagomi K, Fujimori S, Yamada Y, Kaneko K.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1256-9. doi: 10.1080/15257770.2011.616565.

PMID:
22132983
2.

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P.

Medicine (Baltimore). 2001 Mar;80(2):102-12.

4.

[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].

García Puig J, Mateos FA, Jiménez ML, Arcas J, Miranda ME, Oríz Vázquez J.

Med Clin (Barc). 1994 May 14;102(18):681-7. Spanish.

PMID:
8028417
5.

Brain purines in a genetic mouse model of Lesch-Nyhan disease.

Jinnah HA, Page T, Friedmann T.

J Neurochem. 1993 Jun;60(6):2036-45.

PMID:
8492116
6.

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y.

Nihon Rinsho. 2008 Apr;66(4):687-93. Review. Japanese.

PMID:
18409516
7.

Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.

Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL.

Pediatr Res. 1979 Dec;13(12):1365-70.

PMID:
523196
8.

Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.

Puig JG, Mateos FA, Torres RJ, Buño AS.

Eur J Clin Invest. 1998 Nov;28(11):950-7.

PMID:
9824441
9.

Partial HPRT deficiency (Kelley-Seegmiller syndrome).

Saigal R, Chakraborty A, Yadav RN, Prashant RK.

J Assoc Physicians India. 2006 Jan;54:49-52.

PMID:
16649740
10.
11.

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

Tarlé SA, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.

Genomics. 1991 Jun;10(2):499-501.

12.

A human neuronal tissue culture model for Lesch-Nyhan disease.

Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA.

J Neurochem. 2007 May;101(3):841-53.

13.

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
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.

Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.

Brosh S, Boer P, Sperling O, Zoref-Shani E.

J Mol Neurosci. 2000 Feb-Apr;14(1-2):87-91.

PMID:
10854040
16.

Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

Fu R, Sutcliffe D, Zhao H, Huang X, Schretlen DJ, Benkovic S, Jinnah HA.

Mol Genet Metab. 2015 Jan;114(1):55-61. doi: 10.1016/j.ymgme.2014.11.001. Epub 2014 Nov 8.

17.
19.

First trimester diagnosis of Lesch-Nyhan syndrome: applications to other disorders of purine metabolism.

Stout JT, Jackson LG, Caskey CT.

Prenat Diagn. 1985 May-Jun;5(3):183-9.

PMID:
3927283
20.

Unusual presentation of Kelley-Seegmiller syndrome.

Sebesta I, Stiburková B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):648-55. doi: 10.1080/15257770802143863.

PMID:
18600521

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