133 related articles for article (PubMed ID: 477417)
1. Lesch-Nyhan syndrome. Repository identification Nos. GM-2290, 2291, 2292, 2338, 3115, 3116, and 3117.
Tischfield J; Schafer IA; Dickerman LH; Trill J; Mulivor RA; Greene AE; Coriell LL
Cytogenet Cell Genet; 1979; 24(3):199-200. PubMed ID: 477417
[No Abstract] [Full Text] [Related]
2. Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
Mateos FA; Puig JG; Ramos TH; Jiménez ML; Romera NM; González AG
Adv Exp Med Biol; 1991; 309B():47-50. PubMed ID: 1781404
[No Abstract] [Full Text] [Related]
3. 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]
4. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome.
Edwards A; Gibbs RA; Nguyen PN; Ansorge W; Caskey CT
Trans Assoc Am Physicians; 1989; 102():185-94. PubMed ID: 2638525
[No Abstract] [Full Text] [Related]
5. First trimester diagnosis of Lesch-Nyhan syndrome: applications to other disorders of purine metabolism.
Stout JT; Jackson LG; Caskey CT
Prenat Diagn; 1985; 5(3):183-9. PubMed ID: 3927283
[TBL] [Abstract][Full Text] [Related]
6. Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.
Itiaba K; Melançon SB; Dallaire L; Crawhall JC
Biochem Med; 1978 Apr; 19(2):252-9. PubMed ID: 656085
[No Abstract] [Full Text] [Related]
7. [Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier].
Hernández Nieto L; Nyhan WL; Page T; Cubillo Ferreira G; Rodríguez Fernández M; González García T; Cabrera de León A; Santolaria Fernández FJ
Med Clin (Barc); 1985 Jan; 84(2):68-71. PubMed ID: 3974350
[No Abstract] [Full Text] [Related]
8. [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]
9. Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Willers I; Bolz H; Wehnert M; Gal A
J Inherit Metab Dis; 1999 Oct; 22(7):845-6. PubMed ID: 10518289
[No Abstract] [Full Text] [Related]
10. Failure to diagnose Lesch-Nyhan syndrome by first trimester chorionic villus sampling.
Gruber A; Zeitune M; Fejgin M
Prenat Diagn; 1989 Jun; 9(6):452-3. PubMed ID: 2762241
[No Abstract] [Full Text] [Related]
11. Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
Yamada Y; Suzumori K; Tanemura M; Goto H; Ogasawara N
Clin Genet; 1996 Sep; 50(3):164-7. PubMed ID: 8946118
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
Shin-Buehring YS; Osang M; Wirtz A; Haas B; Rahm P; Schaub J
Pediatr Res; 1980 Jun; 14(6):825-9. PubMed ID: 7402756
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Lesch-Nyhan syndrome].
Hernández Nieto L
Med Clin (Barc); 1994 May; 102(18):699-700. PubMed ID: 8028420
[No Abstract] [Full Text] [Related]
15. [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
[TBL] [Abstract][Full Text] [Related]
16. Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
Lee WJ; Lee HM; Chi CS; Yang MT; Lin HY; Lin WH
Zhonghua Yi Xue Za Zhi (Taipei); 1995 Dec; 56(6):359-66. PubMed ID: 8851475
[TBL] [Abstract][Full Text] [Related]
17. A female case of the Leach-Nyhan syndrome.
Hara K; Kashiwamata S; Ogasawara N; Ohishi H; Natsume R; Yamanaka T; Hakamada S; Miyazaki S; Watanabe K
Tohoku J Exp Med; 1982 Jul; 137(3):275-82. PubMed ID: 7112549
[TBL] [Abstract][Full Text] [Related]
18. Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.
Gibbs DA; Headhouse-Benson CM; Watts RW
J Inherit Metab Dis; 1986; 9(1):45-57. PubMed ID: 3014211
[No Abstract] [Full Text] [Related]
19. Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome.
Yamada Y; Goto H; Suzumori K; Ogasawara N
Adv Exp Med Biol; 1998; 431():211-4. PubMed ID: 9598061
[No Abstract] [Full Text] [Related]
20. Lesch-Nyhan disease.
Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):559-63. PubMed ID: 18600504
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
