BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 7831990)

  • 1. 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]  

  • 2. [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]  

  • 3. [Complete and partial deficiency of HPRT].
    Ogasawara N
    Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency].
    Torres-Jiménez R; Mateos-Antón F; Arcas-Martínez J; Pascual-Castroviejo I; García-Puig J
    Rev Neurol; 1998 Dec; 27(160):1050-4. PubMed ID: 9951034
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis.
    Kersnik Levart T
    Pediatr Nephrol; 2007 Nov; 22(11):1975-8. PubMed ID: 17680274
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
    Neychev VK; Mitev VI
    Med Hypotheses; 2004; 63(1):131-4. PubMed ID: 15193365
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. [The Lesch-Nyhan syndrome].
    Peco-Antić A; Smoljanić Z; Dimitrijević N; Kostić M; Marsenić O; Djordjević M; Kruscić D
    Srp Arh Celok Lek; 2001; 129(9-10):260-3. PubMed ID: 11928606
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
    Sculley DG; Dawson PA; Emmerson BT; Gordon RB
    Hum Genet; 1992 Nov; 90(3):195-207. PubMed ID: 1487231
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Lesch-Nyhan syndrome: a family study.
    Pullon DH; Ballantyne GH; Webster D; Becroft DM
    N Z Med J; 1977 Dec; 86(601):518-21. PubMed ID: 272569
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. Self-mutilation behaviour in Lesch-Nyhan syndrome.
    Cauwels RG; Martens LC
    J Oral Pathol Med; 2005 Oct; 34(9):573-5. PubMed ID: 16138897
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Long-term follow-up of ten patients with Lesch-Nyhan syndrome.
    Mizuno T
    Neuropediatrics; 1986 Aug; 17(3):158-61. PubMed ID: 3762872
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
    Torres RJ; Puig JG
    Orphanet J Rare Dis; 2007 Dec; 2():48. PubMed ID: 18067674
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.