These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants). Seegmiller JE Adv Hum Genet; 1976; 6():75-163. PubMed ID: 779428 [No Abstract] [Full Text] [Related]
5. Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation. Fattal A; Spirer Z; Zoref-Shani E; Sperling O Enzyme; 1984; 31(1):55-60. PubMed ID: 6201351 [TBL] [Abstract][Full Text] [Related]
6. [Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]. Laroche C; Cremer GA; Sereni D; Auscher C Bull Mem Acad R Med Belg; 1980; 135(3):219-31. PubMed ID: 7448460 [No Abstract] [Full Text] [Related]
7. [Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome]. Aleksandrova LA; Shaposhnikov AM Vopr Med Khim; 1981; 27(2):215-20. PubMed ID: 7281560 [TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome. Marcus S; Christensen E; Malm G Hum Mutat; 1993; 2(6):473-7. PubMed ID: 8111415 [TBL] [Abstract][Full Text] [Related]
9. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage. Edwards NL; Recker D; Fox IH J Clin Invest; 1979 May; 63(5):922-30. PubMed ID: 447834 [TBL] [Abstract][Full Text] [Related]
10. The diagnosis of HPRT deficiency in the 21st century. Torres RJ; Puig JG Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):564-9. PubMed ID: 18600505 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Neurologic and psychiatric aspects of Lesch-Nyhan syndrome]. Heidelmann G; Knauthe M Psychiatr Neurol Med Psychol (Leipz); 1982 Feb; 34(2):79-87. PubMed ID: 7089122 [TBL] [Abstract][Full Text] [Related]
13. [Effect of a purine-free diet on the purine phosphoribosyltransferase activity of erythrocytes in patients with Lesch-Nyhan syndrome]. Semenova IA; Pen'kovskaia NP Vopr Med Khim; 1984; 30(4):94-7. PubMed ID: 6506590 [TBL] [Abstract][Full Text] [Related]
14. [Lesch-Nyhan disease. Study of a new patient (author's transl)]. Carmena R; Nyhan WL; Ascaso J; Bakay B; Soriano J; Tebar J Med Clin (Barc); 1982 Jan; 78(2):59-64. PubMed ID: 7070131 [No Abstract] [Full Text] [Related]
15. The Lesch-Nyhan syndrome. Nyhan WL Dev Med Child Neurol; 1978 Jun; 20(3):376-80. PubMed ID: 307504 [No Abstract] [Full Text] [Related]
16. Long-term follow-up of ten patients with Lesch-Nyhan syndrome. Mizuno T Neuropediatrics; 1986 Aug; 17(3):158-61. PubMed ID: 3762872 [TBL] [Abstract][Full Text] [Related]
17. Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation. Mitchell G; McInnes RR Can Med Assoc J; 1984 May; 130(10):1323-4. PubMed ID: 6722697 [TBL] [Abstract][Full Text] [Related]
18. Lesch-Nyhan syndrome: mutation, prevention, and therapy. Caskey CT Res Publ Assoc Res Nerv Ment Dis; 1987; 65():187-94. PubMed ID: 3330841 [No Abstract] [Full Text] [Related]
19. [Lesch-Nyhan syndrome]. Hernández Nieto L Med Clin (Barc); 1994 May; 102(18):699-700. PubMed ID: 8028420 [No Abstract] [Full Text] [Related]
20. [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; 102(18):681-7. PubMed ID: 8028417 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]