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4. Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. Jinnah HA; Langlais PJ; Friedmann T J Pharmacol Exp Ther; 1992 Nov; 263(2):596-607. PubMed ID: 1432691 [TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 11307586 [TBL] [Abstract][Full Text] [Related]
7. Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice. Smith DW; Friedmann T Mol Ther; 2000 May; 1(5 Pt 1):486-91. PubMed ID: 10933970 [TBL] [Abstract][Full Text] [Related]
8. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Sege-Peterson K; Chambers J; Page T; Jones OW; Nyhan WL Hum Mol Genet; 1992 Sep; 1(6):427-32. PubMed ID: 1301916 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 8894695 [TBL] [Abstract][Full Text] [Related]
10. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. Cossu A; Micheli V; Jacomelli G; Carcassi A Clin Exp Rheumatol; 2002; 20(6):851-3. PubMed ID: 12508781 [TBL] [Abstract][Full Text] [Related]
11. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Nguyen KV; Naviaux RK; Paik KK; Nyhan WL Mol Genet Metab; 2012 Aug; 106(4):498-501. PubMed ID: 22766437 [TBL] [Abstract][Full Text] [Related]
13. Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficient mice. Smith DW; Jinnah HA Metab Brain Dis; 2007 Mar; 22(1):39-43. PubMed ID: 17265179 [TBL] [Abstract][Full Text] [Related]
14. Purine nucleotide metabolism in cultured neurons and astroglia from HPRT-deficient knockout mice. Zoref-Shani E; Boer P; Brosh S; Pelled D; Bromberg Y; Sperling O Ital J Biochem; 2001; 50(1-2):9-13. PubMed ID: 12170582 [No Abstract] [Full Text] [Related]
15. [Complete and partial deficiency of HPRT]. Ogasawara N Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112 [TBL] [Abstract][Full Text] [Related]
16. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Wu CL; Melton DW Nat Genet; 1993 Mar; 3(3):235-40. PubMed ID: 8485579 [TBL] [Abstract][Full Text] [Related]