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42. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients. Ceballos-Picot I; Le Dantec A; Brassier A; Jaïs JP; Ledroit M; Cahu J; Ea HK; Daignan-Fornier B; Pinson B Orphanet J Rare Dis; 2015 Jan; 10():7. PubMed ID: 25612837 [TBL] [Abstract][Full Text] [Related]
43. Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes. Emmerson BT; Gordon RB; Johnson LA Ciba Found Symp; 1977; (48):97-104. PubMed ID: 245995 [TBL] [Abstract][Full Text] [Related]
44. Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy. Ankem M; Glazier DB; Barone JG Urology; 2000 Dec; 56(6):1056. PubMed ID: 11113762 [TBL] [Abstract][Full Text] [Related]
45. Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man. Curto R; Voit EO; Cascante M Biochem J; 1998 Feb; 329 ( Pt 3)(Pt 3):477-87. PubMed ID: 9445373 [TBL] [Abstract][Full Text] [Related]
47. An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies. Geerdink RA; de Vries WH; Willemse J; Oei TL; de Bruyn CH Clin Genet; 1973; 4(4):348-52. PubMed ID: 4747811 [No Abstract] [Full Text] [Related]
48. 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]
49. Aetiology of gout. Boyle JA Scott Med J; 1973; 18():Suppl 1:222-31. PubMed ID: 4590060 [No Abstract] [Full Text] [Related]
50. 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]
51. Normal uricemia in Lesch-Nyhan syndrome and the association with pulmonary embolism in a young child-a case report and literature review. Tsai JD; Chen SM; Lin CH; Ku MS; Tsao TF; Sheu JN Pediatr Neonatol; 2014 Aug; 55(4):312-5. PubMed ID: 23597535 [TBL] [Abstract][Full Text] [Related]
52. Lesch-Nyhan Syndrome: report on two brothers. Yang MT; Mak SC; Chi CS; Lin HY; Lii YP; Wu KH; Shian WJ Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1994; 35(6):552-8. PubMed ID: 7831990 [TBL] [Abstract][Full Text] [Related]
53. 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]
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55. 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 [TBL] [Abstract][Full Text] [Related]
56. [Metabolic aspects of the pathogenesis of hyperuricemia]. Gutensohn W Verh Dtsch Ges Inn Med; 1986; 92():456-61. PubMed ID: 3811546 [No Abstract] [Full Text] [Related]
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59. [Enzymopathies as a cause of hyperuricemia]. Eyman E; Kawenoki-Minc E Reumatologia; 1977; 15(3):375-81. PubMed ID: 929012 [No Abstract] [Full Text] [Related]