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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 4017276)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

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

  • 6. 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]  

  • 7. 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]  

  • 8. Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.
    Collins JC; Buchanan DN; Thoene JG; Erickson RP; Brooks SS; Gluecksohn-Waelsch S
    Biochem Biophys Res Commun; 1992 Aug; 187(1):340-6. PubMed ID: 1520318
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity.
    Kvittingen EA; Leonard JV; Pettit BR; King GS
    Clin Chim Acta; 1985 Nov; 152(3):271-9. PubMed ID: 4064334
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
    Haghighi-Kakhki H; Rezazadeh J; Ahmadi-Shadmehri A
    J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):795-8. PubMed ID: 24756054
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
    Rootwelt H; Brodtkorb E; Kvittingen EA
    Am J Hum Genet; 1994 Dec; 55(6):1122-7. PubMed ID: 7977370
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
    Bergman AJ; van den Berg IE; Brink W; Poll-The BT; Ploos van Amstel JK; Berger R
    Hum Mutat; 1998; 12(1):19-26. PubMed ID: 9633815
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
    St-Louis M; Leclerc B; Laine J; Salo MK; Holmberg C; Tanguay RM
    Hum Mol Genet; 1994 Jan; 3(1):69-72. PubMed ID: 8162054
    [TBL] [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. 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]  

  • 19. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
    Demers SI; Phaneuf D; Tanguay RM
    Am J Hum Genet; 1994 Aug; 55(2):327-33. PubMed ID: 7913582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.