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.
66 related articles for article (PubMed ID: 3575027)
1. Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Page T; Nyhan WL; Morena de Vega V Pediatrics; 1987 May; 79(5):713-7. PubMed ID: 3575027 [TBL] [Abstract][Full Text] [Related]
2. Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome. Arnold WJ; Meade JC; Kelley WN J Clin Invest; 1972 Jul; 51(7):1805-12. PubMed ID: 4624352 [TBL] [Abstract][Full Text] [Related]
3. [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]
4. Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout. Fox IH; Dwosh IL; Marchant PJ; Lacroix S; Moore MR; Omura S; Wyhofsky V J Clin Invest; 1975 Nov; 56(5):1239-49. PubMed ID: 1184748 [TBL] [Abstract][Full Text] [Related]
5. Electrophoretic variation in the partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Fox IH; Lacroix S J Lab Clin Med; 1977 Jul; 90(1):25-9. PubMed ID: 874369 [TBL] [Abstract][Full Text] [Related]
6. 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; 52(8):2068-74. PubMed ID: 4352580 [TBL] [Abstract][Full Text] [Related]
8. [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 [TBL] [Abstract][Full Text] [Related]
9. [The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?]. Stoll C; Alembik Y; Pfindel M; Chauvin A; Hanauer A Arch Fr Pediatr; 1993 Oct; 50(8):665-9. PubMed ID: 7516145 [TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion. van Dael CM; Pierik LJ; Reijngoud DJ; Niezen-Koning KE; van Diggelen OP; van Spronsen FJ Mol Genet Metab; 2007 Feb; 90(2):221-3. PubMed ID: 17129743 [TBL] [Abstract][Full Text] [Related]
15. Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G; Baieli S; Mauceri L; Greco F; Fiumara A Am J Med Genet; 1998 Dec; 80(4):403-5. PubMed ID: 9856572 [TBL] [Abstract][Full Text] [Related]
16. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Hladnik U; Nyhan WL; Bertelli M Arch Neurol; 2008 Sep; 65(9):1240-3. PubMed ID: 18779430 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. First case of L1CAM gene mutation identified in MASA syndrome in Asia. Kanemura Y; Takuma Y; Kamiguchi H; Yamasaki M Congenit Anom (Kyoto); 2005 Jun; 45(2):67-9. PubMed ID: 15904436 [TBL] [Abstract][Full Text] [Related]
19. [Investigation of a variant form of hypoxanthine-phosphoribosyl transferase in a family (author's transl)]. Willers I; Held KR; Singh S; Goedde HW Wien Klin Wochenschr; 1981 May; 93(10):329-31. PubMed ID: 7257414 [TBL] [Abstract][Full Text] [Related]
20. [Detection of hypoxanthine-guanine phosphoribosyltransferase deficiency in patients with gout. First observation in Italy of a family nucleus with the defect]. Marcolongo R; Di Paolo N Reumatismo; 1972; 24(4):260-4. PubMed ID: 4681348 [No Abstract] [Full Text] [Related] [Next] [New Search]