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Journal Abstract Search

264 related items for PubMed ID: 6971610

  • 1. Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome?
    Laszlo A, Osztovics M, Dallmann L, Mattyus A.
    Ann Genet; 1981; 24(1):17-20. PubMed ID: 6971610
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  • 2. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
    De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP.
    Mol Genet Metab; 2005 May; 85(1):70-7. PubMed ID: 15862283
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  • 4. [A new form of the Lesch-Nyhan syndrome. A study of hypoxanthine-guanine-phosphoribosyl-transferase in fibroblasts. The in vitro and in vivo effect of adenine on enzyme activity].
    Warter S, Bieth R.
    Ann Biol Clin (Paris); 1982 May; 40(5):561-6. PubMed ID: 6186166
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  • 5. [Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome].
    Aleksandrova LA, Shaposhnikov AM.
    Vopr Med Khim; 1981 May; 27(2):215-20. PubMed ID: 7281560
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  • 8. Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.
    Mansfield ES, Blasband A, Kronick MN, Wrabetz L, Kaplan P, Rappaport E, Sartore M, Parrella T, Surrey S, Fortina P.
    Mol Cell Probes; 1993 Aug; 7(4):311-24. PubMed ID: 8232348
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  • 10. [Lesch-Nyhan disease studied in intact fibroblasts].
    Lartigau MT, Martínez A, Bakay B, Page T, Nyhan WL.
    An Esp Pediatr; 1983 May; 18(5):394-8. PubMed ID: 6614674
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  • 11. [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. PubMed ID: 9396032
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  • 13. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
    Seegmiller JE.
    Adv Hum Genet; 1976 Nov; 6():75-163. PubMed ID: 779428
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  • 15. [Self mutilation of the lower lip, associated with athetosis and oligophrenia without purine metabolism disorder ("pseudo Lesch-Nyhan syndrome")].
    Meigel W, Braun-Falco O.
    Hautarzt; 1973 Apr; 24(4):158-60. PubMed ID: 4713272
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  • 17. [Lesch-Nyhan syndrome without self-mutilation: biochemical and morphological studies on blood cells (author's transl)].
    Schneider W, Morgenstern E, Schindera I.
    Dtsch Med Wochenschr; 1976 Jan 30; 101(5):167-72. PubMed ID: 1248389
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  • 20. Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
    Auler K, Broock R, Nyhan WL.
    Curr Protoc Hum Genet; 2015 Jul 01; 86():17.19.1-17.19.10. PubMed ID: 26132002
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