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    Results: 1 to 20 of 245

    1.

    Dopamine function in Lesch-Nyhan disease.

    Nyhan WL.

    Environ Health Perspect. 2000 Jun;108 Suppl 3:409-11. Review.PMID: 10852837 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.

    Lloyd KG, Hornykiewicz O, Davidson L, Shannak K, Farley I, Goldstein M, Shibuya M, Kelley WN, Fox IH.

    N Engl J Med. 1981 Nov 5;305(19):1106-11.PMID: 6117011 [PubMed - indexed for MEDLINE]Related articles

    3.

    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.PMID: 11307586 [PubMed - indexed for MEDLINE]Related articles

    4.

    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 [PubMed - indexed for MEDLINE]Related articles

    5.

    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 [PubMed - indexed for MEDLINE]Related articles

    6.

    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 [PubMed - indexed for MEDLINE]Related articles

    7.

    Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism (the Lesch-Nyhan syndrome).

    Watts RW.

    Adv Enzyme Regul. 1985;23:25-58. Review.PMID: 2866676 [PubMed - indexed for MEDLINE]Related articles

    8.

    Lesch-Nyhan Disease.

    Nyhan WL.

    J Hist Neurosci. 2005 Mar;14(1):1-10.PMID: 15804753 [PubMed - indexed for MEDLINE]Related articles

    9.

    Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

    Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA.

    Hum Mol Genet. 2009 Jul 1;18(13):2317-27. Epub 2009 Apr 2.PMID: 19342420 [PubMed - indexed for MEDLINE]Related articles

    10.

    A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome.

    Zilli EA, Hasselmo ME.

    Neuroreport. 2008 Mar 5;19(4):459-62.PMID: 18287946 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    [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 [PubMed - indexed for MEDLINE]Related articles

    12.

    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 [PubMed - indexed for MEDLINE]Related articles

    13.

    The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.

    Neychev VK, Mitev VI.

    Med Hypotheses. 2004;63(1):131-4.PMID: 15193365 [PubMed - indexed for MEDLINE]Related articles

    14.

    [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 [PubMed - indexed for MEDLINE]Related articles

    15.

    Abnormalities in cellular adhesion of neuroblastoma and fibroblast models of Lesch Nyhan syndrome.

    Stacey NC, Ma MH, Duley JA, Connolly GP.

    Neuroscience. 2000;98(2):397-401.PMID: 10854773 [PubMed - indexed for MEDLINE]Related articles

    16.

    [A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene]

    Maruta K, Ohi T, Yamada Y, Goto H, Ogasawara N, Matsukura S.

    No To Shinkei. 1997 Nov;49(11):1009-13. Japanese. PMID: 9396032 [PubMed - indexed for MEDLINE]Related articles

    17.

    Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF.

    Harkness RA, McCreanor GM, Watts RW.

    J Inherit Metab Dis. 1988;11(3):239-52.PMID: 3148065 [PubMed - indexed for MEDLINE]Related articles

    18.

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

    Torres RJ, Puig JG.

    Orphanet J Rare Dis. 2007 Dec 8;2:48. Review.PMID: 18067674 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.

    Engle SJ, Womer DE, Davies PM, Boivin G, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA.

    Hum Mol Genet. 1996 Oct;5(10):1607-10.PMID: 8894695 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Gilles de la Tourette syndrome: further studies and thoughts.

    Singer HS, Pepple JM, Ramage AL, Butler IJ.

    Ann Neurol. 1978 Jul;4(1):21-5.PMID: 279303 [PubMed - indexed for MEDLINE]Related articles

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