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22. Simple screening methods for disorders of purine metabolism using dried blood and or urine spots on filter paper. Nishida Y, Takeuchi F, Miyamoto T. Adv Exp Med Biol; 1989; 253A():123-7. PubMed ID: 2624180 [No Abstract] [Full Text] [Related]
26. [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. PubMed ID: 8028417 [Abstract] [Full Text] [Related]
27. Starch gel electrophoresis of erythrocyte hypoxanthine-guanine phosphoribosyl transferase and adenine phosphoribosyl transferase: a population survey. Barretto OC, Beutler E. Rev Bras Pesqui Med Biol; 1978 Jun 14; 11(2-3):127-9. PubMed ID: 684261 [Abstract] [Full Text] [Related]
28. Resistance of erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome to destabilization to heat by hypoxanthine. Bashkin P, Sperling O, Schmidt R, Szeinberg A. Adv Exp Med Biol; 1973 Jun 14; 41():215-20. PubMed ID: 4791194 [No Abstract] [Full Text] [Related]
29. Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation. Fattal A, Spirer Z, Zoref-Shani E, Sperling O. Enzyme; 1984 Jun 14; 31(1):55-60. PubMed ID: 6201351 [Abstract] [Full Text] [Related]
30. Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes. Micheli V, Sestini S, Rocchigiani M, Jacomelli G, Manzoni F, Peruzzi L, Gathof BS, Zammarchi E, Pompucci G. Life Sci; 1999 Jun 14; 64(26):2479-87. PubMed ID: 10403507 [Abstract] [Full Text] [Related]
31. [Neurologic and psychiatric aspects of Lesch-Nyhan syndrome]. Heidelmann G, Knauthe M. Psychiatr Neurol Med Psychol (Leipz); 1982 Feb 14; 34(2):79-87. PubMed ID: 7089122 [Abstract] [Full Text] [Related]
32. Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout. Boyle JA, Greene ML, Seegmiller JE. Q J Med; 1971 Oct 14; 40(160):574-5. PubMed ID: 5157418 [No Abstract] [Full Text] [Related]
33. Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity. Shaltiel A, Katzuni E, Boer P, Zoref-Shani E, Sperling O. Isr J Med Sci; 1981 Dec 14; 17(12):1169-73. PubMed ID: 7327917 [Abstract] [Full Text] [Related]
34. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency. Emmerson BT, Thompson L. Q J Med; 1973 Apr 14; 42(166):423-40. PubMed ID: 4785440 [No Abstract] [Full Text] [Related]
35. Purine phosphoribosyl transferases in human erythrocyte ghosts. de Bruyn CH, Oei TL. Adv Exp Med Biol; 1977 Apr 14; 76A():139-52. PubMed ID: 16446 [No Abstract] [Full Text] [Related]
36. 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 14; 85(1):70-7. PubMed ID: 15862283 [Abstract] [Full Text] [Related]
37. Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. Dancis J, Yip LC, Cox RP, Piomelli S, Balis ME. J Clin Invest; 1973 Aug 14; 52(8):2068-74. PubMed ID: 4352580 [Abstract] [Full Text] [Related]