130 related articles for article (PubMed ID: 11783464)
1. Mutations in the hypoxanthine-guanine phosphoribosyltransferase gene in Spanish HPRT deficient families.
Torres RJ; Mateos FA; Molano J; Gathoff BS; O'Neill JP; Gundel RM; Trombley L; Puig JG
Adv Exp Med Biol; 2000; 486():11-4. PubMed ID: 11783464
[No Abstract] [Full Text] [Related]
2. Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Wilson JM; Frossard P; Nussbaum RL; Caskey CT; Kelley WN
J Clin Invest; 1983 Sep; 72(3):767-72. PubMed ID: 6309910
[TBL] [Abstract][Full Text] [Related]
3. Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
Burgemeister R; Gutensohn W; Van den Berghe G; Jaeken J
Adv Exp Med Biol; 1994; 370():331-5. PubMed ID: 7660921
[No Abstract] [Full Text] [Related]
4. Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
Yamada Y; Yamada K; Nomura N; Yamano A; Kimura R; Naiki M; Fukushi D; Wakamatsu N; Taniguchi A; Yamaoka N; Kaneko K; Fujimori S
Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1272-5. PubMed ID: 22132986
[TBL] [Abstract][Full Text] [Related]
5. Inherited disorders of purine metabolism--underlying molecular mechanisms.
Gutensohn W
Klin Wochenschr; 1984 Oct; 62(20):953-62. PubMed ID: 6209448
[TBL] [Abstract][Full Text] [Related]
6. Adenine phosphoribosyltransferase in patients with disorders of purine and pyrimidine metabolism.
Wilson JM; Daddona PE; Otoadese T; Kelley WN
J Lab Clin Med; 1982 Feb; 99(2):163-74. PubMed ID: 7061917
[TBL] [Abstract][Full Text] [Related]
7. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.
Page T; Bakay B; Nissinen E; Nyhan WL
J Inherit Metab Dis; 1981; 4(4):203-6. PubMed ID: 6796771
[TBL] [Abstract][Full Text] [Related]
8. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Puig JG; Torres RJ; Mateos FA; Ramos TH; Arcas JM; Buño AS; O'Neill P
Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
[TBL] [Abstract][Full Text] [Related]
9. Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients.
Hershfield MS
J Clin Invest; 1981 Mar; 67(3):696-701. PubMed ID: 6782120
[TBL] [Abstract][Full Text] [Related]
10. [Gene therapy for genetic disorders of purine metabolism].
Hidaka Y
Nihon Rinsho; 1996 Dec; 54(12):3374-8. PubMed ID: 8976123
[TBL] [Abstract][Full Text] [Related]
11. Carrier state in HGPRT deficiency. A study in 14 Spanish families.
Torres RJ; Buño A; Mateos FA; Puig JG
Adv Exp Med Biol; 1998; 431():197-200. PubMed ID: 9598058
[No Abstract] [Full Text] [Related]
12. 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]
13. [The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases].
Torres Jiménez R; Mateos Antón F; Molano Mateos J; García Puig J
Med Clin (Barc); 1997 Mar; 108(9):344-8. PubMed ID: 9139158
[TBL] [Abstract][Full Text] [Related]
14. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Torres RJ; Mateos FA; Molano J; Gathoff BS; O'Neill JP; Gundel RM; Trombley L; Puig JG
Hum Mutat; 2000 Apr; 15(4):383. PubMed ID: 10737990
[TBL] [Abstract][Full Text] [Related]
15. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Torres RJ; Prior C; Puig JG
Metabolism; 2007 Sep; 56(9):1179-86. PubMed ID: 17697859
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
Davidson BL; Tarlé SA; Palella TD; Kelley WN
J Clin Invest; 1989 Jul; 84(1):342-6. PubMed ID: 2738157
[TBL] [Abstract][Full Text] [Related]
17. Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Torres RJ; Prior C; Puig JG
Nucleosides Nucleotides Nucleic Acids; 2006; 25(9-11):1077-82. PubMed ID: 17065067
[TBL] [Abstract][Full Text] [Related]
18. Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
Micheli V; Pescaglini M; Rocchigiani M; Sestini S; Jacomelli G; Hayek G; Pompucci G
Adv Exp Med Biol; 1994; 370():349-52. PubMed ID: 7660925
[No Abstract] [Full Text] [Related]
19. Gene replacement therapy for inborn errors of purine metabolism.
Nelson DL; Chang SM; Henkel-Tigges J; Wager-Smith K; Belmont JW; Caskey CT
Cold Spring Harb Symp Quant Biol; 1986; 51 Pt 2():1065-71. PubMed ID: 3555977
[TBL] [Abstract][Full Text] [Related]
20. Nonrandom selection of hair follicles in HPRT heterozygosity.
Page T; Broock R
Adv Exp Med Biol; 1998; 431():167-70. PubMed ID: 9598052
[No Abstract] [Full Text] [Related]
[Next] [New Search]
