BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

114 related articles for article (PubMed ID: 3317254)

  • 1. Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts.
    Berger R; Van Faassen H; Taanman JW; De Vries H; Agsteribbe E
    Pediatr Res; 1987 Oct; 22(4):394-8. PubMed ID: 3317254
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
    Kvittingen EA; Rootwelt H; van Dam T; van Faassen H; Berger R
    Pediatr Res; 1992 Jan; 31(1):43-6. PubMed ID: 1594329
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.
    Kvittingen EA; Halvorsen S; Jellum E
    Pediatr Res; 1983 Jul; 17(7):541-4. PubMed ID: 6622096
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.
    Kvittingen EA; Brodtkorb E
    Scand J Clin Lab Invest Suppl; 1986; 184():35-40. PubMed ID: 3473612
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
    Kvittingen EA; Rootwelt H; Brandtzaeg P; Bergan A; Berger R
    J Clin Invest; 1993 Apr; 91(4):1816-21. PubMed ID: 8473520
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary tyrosinemia type I--an overview.
    Kvittingen EA
    Scand J Clin Lab Invest Suppl; 1986; 184():27-34. PubMed ID: 3296130
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
    Berger R; Smit GP; Stoker-de Vries SA; Duran M; Ketting D; Wadman SK
    Clin Chim Acta; 1981 Jul; 114(1):37-44. PubMed ID: 7249373
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Self-induced correction of the genetic defect in tyrosinemia type I.
    Kvittingen EA; Rootwelt H; Berger R; Brandtzaeg P
    J Clin Invest; 1994 Oct; 94(4):1657-61. PubMed ID: 7929843
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
    Rootwelt H; Chou J; Gahl WA; Berger R; Coşkun T; Brodtkorb E; Kvittingen EA
    Hum Genet; 1994 Jun; 93(6):615-9. PubMed ID: 8005583
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.
    Endo F; Kitano A; Uehara I; Nagata N; Matsuda I; Shinka T; Kuhara T; Matsumoto I
    Pediatr Res; 1983 Feb; 17(2):92-6. PubMed ID: 6828337
    [TBL] [Abstract][Full Text] [Related]  

  • 11. On the enzymic defects in hereditary tyrosinemia.
    Lindblad B; Lindstedt S; Steen G
    Proc Natl Acad Sci U S A; 1977 Oct; 74(10):4641-5. PubMed ID: 270706
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
    Kvittingen EA; Børresen AL; Stokke O; van der Hagen CB; Lie SO
    Clin Genet; 1985 Jun; 27(6):550-4. PubMed ID: 4017276
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer.
    Phaneuf D; Hadchouel M; Tanguay RM; Bréchot C; Ferry N
    Biochem Biophys Res Commun; 1995 Mar; 208(3):957-63. PubMed ID: 7702626
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
    Tanguay RM; Valet JP; Lescault A; Duband JL; Laberge C; Lettre F; Plante M
    Am J Hum Genet; 1990 Aug; 47(2):308-16. PubMed ID: 2378356
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enzyme defect in a case of tyrosinemia type I, acute form.
    Furukawa N; Kinugasa A; Seo T; Ishii T; Ota T; Machida Y; Inoue F; Imashuku S; Kusunoki T; Takamatsu T
    Pediatr Res; 1984 May; 18(5):463-6. PubMed ID: 6145143
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The enzyme defects in hereditary tyrosinaemia type I.
    Furukawa N; Hayano T; Sato N; Inoue F; Machida Y; Kinugasa A; Imashuku S; Kusunoki T; Takamatisu T
    J Inherit Metab Dis; 1984; 7 Suppl 2():137-8. PubMed ID: 6434869
    [No Abstract]   [Full Text] [Related]  

  • 17. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
    Poudrier J; Lettre F; Scriver CR; Larochelle J; Tanguay RM
    Mol Genet Metab; 1998 Jun; 64(2):119-25. PubMed ID: 9705236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
    Rootwelt H; Kvittingen EA; Høie K; Agsteribbe E; Hartog M; van Faassen H; Berger R
    Hum Genet; 1992 May; 89(2):229-33. PubMed ID: 1350265
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biochemical observations on so-called hereditary tyrosinemia.
    Gaull GE; Rassin DK; Solomon GE; Harris RC; Sturman JA
    Pediatr Res; 1970 Jul; 4(4):337-44. PubMed ID: 4393588
    [No Abstract]   [Full Text] [Related]  

  • 20. Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.
    Kvittingen EA; Steinmann B; Gitzelmann R; Leonard JV; Andria G; Børresen AL; Mossman J; Micara G; Lindblad B
    Pediatr Res; 1985 Apr; 19(4):334-7. PubMed ID: 4000758
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.